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Factor VIII gene rearrangements in patients with severe haemophilia A

✍ Scribed by A.C. Goodeve; F.E. Preston; I.R. Peake


Book ID
118555101
Publisher
The Lancet
Year
1994
Tongue
English
Weight
308 KB
Volume
343
Category
Article
ISSN
0140-6736

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Hemophilia A is a common X-linked bleeding disorder caused by various types of mutations in the factor VIII gene F8C. The most common intron 22-inversion is responsible for about 40% of the severe hemophilia A cases while large deletions, point mutations and small (less than 100 bp) deletions or ins