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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682262/
https://ncbi.nlm.nih.gov/pubmed/8503448
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