A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
作者： S M Huson , D A Compston , P Clark , P S Harper
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摘要: A population based study of von Recklinghausen neurofibromatosis in south east Wales (population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 the population). In these penetrance NF-1 gene was 100% by age five years. The genetic fitness sufferers found to be reduced 0.47, effect being more marked males than females (f = 0.31 and 0.60, respectively). Forty-one cases were judged represent new disease mutations mutation rate estimated lie between 3.1 x 10(-5) 10.4 10(-5). parental for not found, nor a maternal on severity.
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