Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases of myotonic dystrophy is related both to age at onset of the disorder and to the severity of the phenotype. The la...

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Главные авторы: Harley, H G, Rundle, S A, MacMillan, J C, Myring, J, Brook, J D, Crow, S, Reardon, W, Fenton, I, Shaw, D J, Harper, P S
Формат: Artigo
Язык:Inglês
Опубликовано: 1993
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682262/
https://ncbi.nlm.nih.gov/pubmed/8503448
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