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De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis

✍ Scribed by M. Delpech; N Deburgrave; M. Baudis; P. Maissonneuve; J. M. Bardin; Yvette Sultan; J. -C. Kaplan

Book ID: 104703245
Publisher: Springer
Year: 1986
Tongue: English
Weight: 207 KB
Volume: 74
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00282556

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✦ Synopsis

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; the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.

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