Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in...

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Hlavní autoři: Melchionda, S, Cobo, A, Gennarelli, M, Martorell, L, Fattorini, C, Baiget, M, Lopez de Munain, A, Johnson, K, Shelbourne, P, Novelli, G
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016172/
https://ncbi.nlm.nih.gov/pubmed/1453428
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