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A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

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 of the population). In these families penetrance of the NF-1 gene was 100% by the age of five years. The genetic fitness of NF...

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Detalhes bibliográficos
Main Authors: Huson, S M, Compston, D A, Clark, P, Harper, P S
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015740/
https://ncbi.nlm.nih.gov/pubmed/2511318
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