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Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1975 Feb;72(2):586-9
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Marfan syndrome. Demonstration of abnormal elastin in aorta.
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Nucleic Acids Res. 1983 Sep 10;11(17):6021-39
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Biochemistry. 1981 Sep 15;20(19):5443-8
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Methods Enzymol. 1982;82 Pt A:3-32
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J Invest Dermatol. 1982 Jul;79 Suppl 1:25s-30s
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Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice.
Proc Natl Acad Sci U S A. 1984 Mar;81(5):1504-8
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Confirmation that the type I collagen gene on chromosome 17 is COL1A1 (alpha 1(I), using a human genomic probe.
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Human placenta type V collagens. Evidence for the existence of an alpha 1(V) alpha 2(V) alpha 3(V) collagen molecule.
J Biol Chem. 1984 Nov 25;259(22):14170-4
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Biosynthesis of an unusual collagen type by human astrocytoma cells in vitro.
J Biol Chem. 1983 Feb 25;258(4):2653-61
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Susceptibility of type V collagen to neutral proteases: evidence that the major molecular species is a thrombin-sensitive heteropolymer, [alpha 1(V)]2 alpha 2(V).
Biochemistry. 1981 Jun 23;20(13):3778-84
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N Engl J Med. 1984 Aug 9;311(6):376-86
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Clin Orthop Relat Res. 1981 Sep;(159):11-25
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Chain assembly intermediate in the biosynthesis of type III procollagen in chick embryo blood vessels.
J Biol Chem. 1981 Dec 25;256(24):13193-9
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A Hind III restriction site polymorphism in the human collagen alpha 1 (I)-like gene on chromosome No. 7.
Hum Genet. 1982;62(2):175-6
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Nature. 1981 Jun 11;291(5815):450
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Nucleic Acids Res. 1984 May 25;12(10):4207-28
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Am J Hum Genet. 1984 Nov;36(6):1172-9
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Construction and characterization of pro alpha 1 collagen complementary deoxyribonucleic acid clones.
Biochemistry. 1979 Jul 10;18(14):3146-52
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Human type I procollagen genes are located on different chromosomes.
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6627-30
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A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.
J Cell Biochem. 1985;27(2):169-74
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Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.
Nature. 1983 Jul 28-Aug 3;304(5924):315-20
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Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
J Biol Chem. 1985 Feb 10;260(3):1734-42
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Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization.
Cytogenet Cell Genet. 1983;35(1):64-6
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Formation of the triple helix of type I procollagen in cellulo. A kinetic model based on cis-trans isomerization of peptide bonds.
Eur J Biochem. 1981 Sep 1;118(3):607-13
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Isolation and characterization of new collagens from chick cartilage.
Eur J Biochem. 1982 May;124(1):57-62
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Construction of a cDNA clone corresponding to mouse alpha 1(IV) procollagen.
Nucleic Acids Res. 1984 Feb 24;12(4):2035-46
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Effects of matrix macromolecules on chondrocyte gene expression: synthesis of a low molecular weight collagen species by cells cultured within collagen gels.
J Cell Biol. 1982 Jun;93(3):767-74
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Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts.
J Biol Chem. 1985 Jan 10;260(1):531-6
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Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.
Am J Hum Genet. 1982 May;34(3):381-7
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Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.
J Biol Chem. 1980 Sep 25;255(18):8887-93
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Identification of a Balb/c mouse pro alpha 1(I) procollagen gene: evidence for insertions or deletions in gene coding sequences.
DNA. 1981;1(1):59-69
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A repetitive structure in the chick alpha 2-collagen gene.
Cold Spring Harb Symp Quant Biol. 1981;45 Pt 2:777-83
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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
Proc Natl Acad Sci U S A. 1982 Jun;79(12):3838-42
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Isolation of cDNA clones for basal lamina components: type IV procollagen.
Nucleic Acids Res. 1983 Sep 24;11(18):6199-209
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Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.
Biochem J. 1984 Jan 1;217(1):103-15
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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
Nature. 1982 Apr 15;296(5858):627-31
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Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons.
Nature. 1984 Jul 26-Aug 1;310(5975):337-40
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Identification and partial characterization of three low-molecular-weight collagenous polypeptides synthesized by chondrocytes cultured within collagen gels in the absence and in the presence of fibronectin.
Biochem J. 1983 May 1;211(2):417-26
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Construction and characterization of a 2.5-kilobase procollagen clone.
Proc Natl Acad Sci U S A. 1978 Nov;75(11):5417-21
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Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.
J Biol Chem. 1985 Feb 10;260(3):1937-44
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Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta.
Am J Med Genet. 1984 Dec;19(4):707-14
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DNA and chromatin structure of the human alpha 1 (I) collagen gene.
J Biol Chem. 1984 Dec 10;259(23):14906-13
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Human cartilage collagens. Comparison of cartilage collagens with human type V collagen.
J Biol Chem. 1982 Jul 10;257(13):7852-6
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Identification of genomic DNA coding for chicken type II procollagen.
J Biol Chem. 1983 Oct 10;258(19):11617-21
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Construction of a recombinant bacterial plasmid containing pro-alpha 1(I) collagen DNA sequences.
J Biol Chem. 1980 Mar 25;255(6):2612-5
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Type X collagen, a product of hypertrophic chondrocytes.
Biochem J. 1985 Apr 15;227(2):545-54
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Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.
J Biol Chem. 1983 Jun 25;258(12):7721-8
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Structure and sequence of the chicken type II procollagen gene. Characterization of the region encoding the carboxyl-terminal telopeptide and propeptide.
J Biol Chem. 1984 Jun 25;259(12):7826-34
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Marfan syndrome: abnormal alpha 2 chain in type I collagen.
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9
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Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.
Am J Med Genet. 1984 Nov;19(3):607-22
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A new method for detection of small modifications in genomic DNA, applied to the human delta-beta globin gene cluster.
Eur J Biochem. 1984 Aug 1;142(3):473-80
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Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome.
Hum Genet. 1979 Mar 12;47(2):141-50
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DNA sequence comparison of the regulatory signals at the 5' end of the mouse and chick alpha 2 type I collagen genes.
J Biol Chem. 1984 Jun 25;259(12):7411-5
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Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II).
J Pediatr. 1982 Jan;100(1):127-33
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Monoclonal antibodies against chicken type IV and V collagens: electron microscopic mapping of the epitopes after rotary shadowing.
J Cell Biol. 1984 May;98(5):1637-44
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Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders.
J Invest Dermatol. 1982 Jul;79 Suppl 1:7s-16s
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Osteonectin, a bone-specific protein linking mineral to collagen.
Cell. 1981 Oct;26(1 Pt 1):99-105
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Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1984 Apr;81(7):2213-7
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Structural diversity and domain composition of a unique collagenous fragment (intima collagen) obtained from human placenta.
Biochem J. 1983 May 1;211(2):295-302
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Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5142-6
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Molecular cloning and carboxyl-propeptide analysis of human type III procollagen.
Nucleic Acids Res. 1984 Dec 21;12(24):9383-94
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Electron-microscopical approach to a structural model of intima collagen.
Biochem J. 1983 May 1;211(2):303-11
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The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.
Cell. 1980 Dec;22(3):887-92
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Isolation and characterization of a genomic clone encoding chick alpha 1 type III collagen.
J Biol Chem. 1983 Mar 10;258(5):2758-61
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Construction and identification of a cDNA clone for human type II procollagen mRNA.
Biochem J. 1985 Jul 1;229(1):183-8
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Synthesis and characterization of cDNA encoding a cartilage-specific short collagen.
Proc Natl Acad Sci U S A. 1984 May;81(10):3014-8
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A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6179-83
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Evidence for a dose-dependent inflammatory response to quartz in the rat lung and its significance in early changes in collagen metabolism.
Environ Health Perspect. 1983 Sep;51:141-6
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Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.
Proc Natl Acad Sci U S A. 1981 Jun;78(6):3516-20
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Construction of a recombinant bacterial plasmid containing a chick pro-alpha2 collagen gene sequence.
Proc Natl Acad Sci U S A. 1978 Dec;75(12):5846-50
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A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function.
JAMA. 1980 Jul 11;244(2):144-7
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Construction of DNA sequences complementary to rat alpha 1 and alpha 2 collagen mRNA and their use in studying the regulation of type I collagen synthesis by 1,25-dihydroxyvitamin D.
Biochemistry. 1984 Dec 4;23(25):6210-6
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Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.
Nature. 1982 Nov 4;300(5887):69-71
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The biosynthesis of procollagen.
Essays Biochem. 1976;12:77-113
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Isolation of cDNA clones specific for collagen IV and laminin from mouse teratocarcinoma cells.
Proc Natl Acad Sci U S A. 1983 Oct;80(19):5880-4
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Matrix sialoprotein of developing bone.
J Biol Chem. 1983 Oct 25;258(20):12723-7
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Isolation and characterization of a human pro alpha 2(I) collagen gene segment.
J Invest Dermatol. 1984 Mar;82(3):265-9
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Altered relation of two collagen types in osteogenesis imperfecta.
N Engl J Med. 1977 May 26;296(21):1200-3
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Bibliography of cloned human and other selected DNAs.
Am J Hum Genet. 1984 Jan;36(1):235-51
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Isolation and characterization of a cDNA clone for the amino-terminal portion of the pro-alpha 1(II) chain of cartilage collagen.
J Biol Chem. 1984 Nov 25;259(22):13668-73
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Proteoglycans of developing bone.
J Biol Chem. 1983 May 25;258(10):6588-94
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Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
J Biol Chem. 1985 Jan 25;260(2):691-4
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Conservation of the sizes for one but not another class of exons in two chick collagen genes.
Nature. 1984 Jul 26-Aug 1;310(5975):333-7
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Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
J Biol Chem. 1984 Nov 10;259(21):12941-4
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Collagen heterogeneity in human cartilage: identification of several new collagen chains.
Biochem Biophys Res Commun. 1979 Apr 27;87(4):1124-31
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Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
J Biol Chem. 1984 Sep 10;259(17):11129-38
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Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.
J Biol Chem. 1983 Aug 25;258(16):10128-35
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Structurally distinct collagen types.
Annu Rev Biochem. 1980;49:957-1003
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Biochemical heterogeneity of osteogenesis imperfecta: New variant.
Lancet. 1979 Jun 2;1(8127):1193
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Copy number of a human type I alpha 2 collagen gene.
J Biol Chem. 1982 Nov 25;257(22):13816-22
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A unique low molecular weight collagen secreted by cultured chick embryo chondrocytes.
J Biol Chem. 1982 Oct 25;257(20):12444-50
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Structure of the pro alpha 2 (I) collagen gene.
Nature. 1981 Nov 12;294(5837):129-35
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Chinese hamster lung cells synthesize and confine to the cellular domain a collagen composed solely of B chains.
Proc Natl Acad Sci U S A. 1980 Sep;77(9):5206-10
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Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1984 Jul;81(14):4524-8
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Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.
Nature. 1983 Jul 7-13;304(5921):78-80
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Identification and characterization of the human type II collagen gene (COL2A1).
Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9
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Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.
J Biol Chem. 1983 May 10;258(9):5915-21
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Comparisons of the complete sequences of two collagen genes from Caenorhabditis elegans.
Cell. 1982 Sep;30(2):599-606
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Biosynthesis of procollagen.
Annu Rev Biochem. 1978;47:129-62
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An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.
Br Med J (Clin Res Ed). 1984 Jan 14;288(6411):112-3
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Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.
J Clin Invest. 1983 Mar;71(3):689-97
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Biosynthetic and structural properties of endothelial cell type VIII collagen.
J Biol Chem. 1983 Nov 10;258(21):13391-401
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DNA markers for nervous system diseases.
Science. 1984 Sep 21;225(4668):1320-6
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Osteogenesis imperfecta (lethal) bones contain types III and V collagens.
J Clin Pathol. 1980 Jun;33(6):534-8
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The structure of type IX collagen.
J Biol Chem. 1985 Jan 10;260(1):220-5
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Collagen genes and brittle bones.
Ann Intern Med. 1983 Nov;99(5):700-4
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Expression and novel structure of a collagen gene in Drosophila.
Proc Natl Acad Sci U S A. 1982 Mar;79(6):1761-5
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Identification of a new disulphide bonded collagen from cartilage.
FEBS Lett. 1980 Nov 17;121(1):51-4
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Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.
Clin Genet. 1984 Mar;25(3):278-87
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Glycosaminoglycans and their binding to biological macromolecules.
Annu Rev Biochem. 1978;47:385-417
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Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.
J Clin Invest. 1983 Oct;72(4):1262-7
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The structure of collagen genes.
Int Rev Connect Tissue Res. 1983;10:1-63
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Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death.
Cell. 1984 Sep;38(2):597-607
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The genetics of blood coagulation.
Adv Hum Genet. 1983;13:1-81
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Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain.
Nucleic Acids Res. 1982 Oct 11;10(19):5925-34
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Characterization of a type IV procollagen synthesized by human amniotic fluid cells in culture.
J Biol Chem. 1979 May 25;254(10):4197-204
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Structural organization of a 17 KB segment of the alpha 2 collagen gene: evaluation by R loop mapping.
Nucleic Acids Res. 1980 May 24;8(10):2241-53
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Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.
Arch Dermatol Res. 1980;269(2):169-77
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