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Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII

✍ Scribed by X.-H. CAI; X.-F. WANG; J. DAI; Y. FANG; Q.-L. DING; F. XIE; H.-L. WANG


Book ID
109151697
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
683 KB
Volume
4
Category
Article
ISSN
1538-7933

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Hemophilia A (HA) is an X-linked hereditary bleeding disorder defined by a qualitative and/or quantitative factor VIII (FVIII) deficiency. The molecular diagnosis of HA is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. The p