Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

doi:10.1038/324380a0

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Article

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

Nature - 1 Jan 2000

Youssoufian H, Kazazian H H, Phillips D G, Aronis S, Tsiftis G, Brown V A, Antonarakis S E

Abstract excerpt

Haemophilia A is a common disorder of blood coagulation caused by a deficiency of factor VIII. It is inherited as an X-linked recessive trait, and one-third of all cases are thought to result from de novo mutations. The clinical severity of haemophilia A varies markedly among different families a...

Topics

Base Composition
DNA
Exons
Factor VIII
Female
Genes
Hemophilia A
Humans
Male
Mutation
Pedigree

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