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Molecular etiology of factor VIII deficiency in hemophilia A.
Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Switzerland.
Hemophilia is a common X-linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients with severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance.
PMID: 7728145 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, et al.
Am J Hum Genet. 2000 Mar; 66(3):790-818.
[Am J Hum Genet. 2000]
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The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.
Kemball-Cook G, Tuddenham EG, Wacey AI.
Nucleic Acids Res. 1998 Jan 1; 26(1):216-9.
[Nucleic Acids Res. 1998]
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Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.
Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, Hoffman EP.
Am J Hum Genet. 1997 Jul; 61(1):160-70.
[Am J Hum Genet. 1997]
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