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Missing heritability: paternal age effect mutations and selfish spermatogonia

✍ Scribed by Goriely, Anne; Wilkie, Andrew O. M.


Book ID
109953219
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
234 KB
Volume
11
Category
Article
ISSN
1471-0056

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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