Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

doi:10.1111/j.1365-2141.1995.tb05213.x

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Article

Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

British journal of haematology - 1 Aug 1995

Windsor S, Lyng A, Taylor S A, Ewenstein B M, Neufeld E J, Lillicrap D

Abstract excerpt

A 2-year-old girl is described with severe haemophilia A (factor VIII: C < 0.01 units/ml). Both of her parents were phenotypically normal. Cytogenetic analysis on the proband demonstrated an interstitial X chromosome deletion encompassing Xq26-q28. Molecular studies with several polymorphic marke...

Topics

Blotting, Southern
Factor VIII
Female
Hemophilia A
Humans
Infant
Mutation
Pedigree

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