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PMID: 4045960 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Gene deletion in an Italian haemophilia B subject.

Journal of medical genetics ·Vol. 22 ·No. 4 ·1985-08-00 ·Pages 305-7

Bernardi F, del Senno L, Barbieri R, Buzzoni D, Gambari R, Marchetti G, Conconi F, Panicucci F, Positano M, Pitruzzello S

Abstract

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

MeSH Terms
Chromosome Deletion Factor IX/genetics Hemophilia A/genetics Humans Italy/ethnology Male Nucleic Acid Hybridization Plasmids
Chemicals
Factor IX
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Bernardi F
del Senno L
Barbieri R
Buzzoni D
Gambari R
Marchetti G
Conconi F
Panicucci F
Positano M
Pitruzzello S
References (10)
10 references, click to expand
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    Lancet. 1984 Feb 4;1(8371):239-41 PMID: 6142992
  2. The gene structure of human anti-haemophilic factor IX.
    EMBO J. 1984 May;3(5):1053-60 PMID: 6329734
  3. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.
    Cell. 1980 May;20(1):119-30 PMID: 6446404
  4. Blood coagulation.
    Annu Rev Biochem. 1980;49:765-811 PMID: 6996572
  5. Unexpected relationships between four large deletions in the human beta-globin gene cluster.
    Cell. 1983 Dec;35(3 Pt 2):701-9 PMID: 6652684
  6. Molecular cloning of the gene for human anti-haemophilic factor IX.
    Nature. 1982 Sep 9;299(5879):178-80 PMID: 6287289
  7. Isolation and characterization of a cDNA coding for human factor IX.
    Proc Natl Acad Sci U S A. 1982 Nov;79(21):6461-4 PMID: 6959130
  8. Gene deletions in patients with haemophilia B and anti-factor IX antibodies.
    Nature. 1983 May 12-18;303(5913):181-2 PMID: 6843667
  9. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.
    Nucleic Acids Res. 1983 Apr 25;11(8):2325-35 PMID: 6687940
  10. Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta.
    Eur J Biochem. 1981 May;116(1):127-30 PMID: 7250116
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.22.4.305
Published
1985-08-00
Pages
305-7
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1049455
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.22.4.305 PMC Full Text View journal details
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