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Non-paternity rate and screening in genetic disease analysis

✍ Scribed by Le Roux, Marie-Gaëlle; Pascal, Olivier; David, Albert; Moisan, Jean-Paul

Book ID
122723050
Publisher
The Lancet
Year
1993
Tongue
English
Weight
179 KB
Volume
341
Category
Article
ISSN
0140-6736

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We have performed formal genetic studies on 26 patients (14 males, 12 females) with neurofibromatosis 1 (von Recklinghausen's disease, NF1) in Japan. Family studies of 74 members of 18 kindreds revealed that 50% of the cases were caused by a new mutation; the mutation rate was assumed to be 7.3-10.5