Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

doi:10.1046/j.1365-2516.2001.00528.x

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Article

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2001

Theophilus B D, Enayat M S, Williams M D, Hill F G

Abstract excerpt

Haemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene. We have used Southern blotting and chemical mismatch analysis (CMA) to identify the mutations causing haemophilia A in 59 local or referred patients or carriers of haemophilia A. Southern blot analysis of 87 families with FVIII : C < 5% identified 31 as positive for the intron 22...

Topics

Factor VIII
Female
Hemophilia A
Heterozygote
Humans
Male
Mutation
Polymerase Chain Reaction

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Open in PubMed

Identifiers

PMID: 11442643
DOI: 10.1046/j.1365-2516.2001.00528.x

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