Factor VIII gene inversions in severe hemophilia A patients.

doi:10.1080/00313029500169542

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Article

Factor VIII gene inversions in severe hemophilia A patients.

Pathology - 1 Jan 1995

Van de Water N S, Williams R, Nelson J, Browett P J

Abstract excerpt

The mutations causing hemophilia A are very heterogeneous with the exception of a large inversion involving intron 22 in the factor VIII (FVIII) gene which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). In these patients it is thought...

Topics

Blotting, Southern
Chromosome Inversion
DNA Mutational Analysis
Factor VIII
Female
Genetic Carrier Screening
Hemophilia A
Humans
Introns
Mutation
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis

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