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PMID: 2377450 Published · ppublish English Journal Article

Haemophilia B: database of point mutations and short additions and deletions.

Nucleic acids research ·Vol. 18 ·No. 14 ·1990-07-25 ·Pages 4053-9

Giannelli F, Green PM, High KA, Lozier JN, Lillicrap DP, Ludwig M, Olek K, Reitsma PH, Goossens M, Yoshioka A

Abstract

暂无摘要

MeSH Terms
Base Sequence Factor IX/genetics Female Hemophilia B/genetics Humans Information Systems Male Molecular Sequence Data Mutation
Chemicals
Factor IX
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Giannelli F
Paediatric Research Unit, Guy's Tower, London Bridge, London, UK.
Green P M
High K A
Lozier J N
Lillicrap D P
Ludwig M
Olek K
Reitsma P H
Goossens M
Yoshioka A
References (43)
43 references, click to expand
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  34. The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.
    Nucleic Acids Res. 1990 Jun 11;18(11):3227-31 PMID: 1972560
  35. Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
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  36. Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.
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    Proc Natl Acad Sci U S A. 1986 Aug;83(16):5803-7 PMID: 3461460
  40. Direct detection of point mutations by mismatch analysis: application to haemophilia B.
    Nucleic Acids Res. 1989 May 11;17(9):3347-58 PMID: 2726481
  41. A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2.
    Nucleic Acids Res. 1989 May 11;17(9):3614 PMID: 2726505
  42. The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians.
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/18.14.4053
Published
1990-07-25
Pages
4053-9
Language
English
Region
England
NLM ID
0411011
PMCID
PMC331159
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/18.14.4053 PMC Full Text View journal details
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