Detection and sequence of mutations in the factor VIII gene of haemophiliacs.

doi:10.1038/315427a0

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Article

Detection and sequence of mutations in the factor VIII gene of haemophiliacs.

Nature - 1 Jan 2000

Gitschier J, Wood W I, Tuddenham E G, Shuman M A, Goralka T M, Chen E Y, Lawn R M

Abstract excerpt

The most common inherited bleeding disorder in man, haemophilia A, is caused by defect in factor VIII, a component in the blood coagulation pathway. The X-chromosome-linked disease almost certainly stems from a heterogeneous collection of genetic lesions. Because, without proper treatment, haemop...

Topics

Autoantibodies
Base Sequence
Chromosome Deletion
DNA Restriction Enzymes
Factor VIII
Genes
Hemophilia A
Humans
Male
Mutation
Pedigree

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