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Prenatal diagnosis of hemophilia A, presenting a new mutation in the FVIII gene

✍ Scribed by Zhihui He; Shufeng Chen; Weiying Jiang


Book ID
116304729
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
495 KB
Volume
44
Category
Article
ISSN
1079-9796

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De novo mutation in hemophilia A establi
✍ M. Delpech; N Deburgrave; M. Baudis; P. Maissonneuve; J. M. Bardin; Yvette Sulta πŸ“‚ Article πŸ“… 1986 πŸ› Springer 🌐 English βš– 207 KB

In a family with a single case of hemophilia A genetic counselling was requested by the pregnant aunt of the propositus. The haplotypes generated by two extra-genic RFLPs, at DXS52 (St14/Taq1) and DXS15 (DX13/BglII), and one intragenic RFLP in F8C (647/BclI) indicated that: she was not a carrier; th