Presymptomatic diagnosis of myotonic dystrophy.

The discovery of an expanded (CTG)n repeat sequence in myotonic dystrophy (DM) has greatly improved our ability to detect DM gene carriers who have few or none of the classical signs of this disorder. We report here our experience with two such groups of gene carriers. We used a PCR based protocol t...

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Detaylı Bibliyografya
Asıl Yazarlar: Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1992
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016170/
https://ncbi.nlm.nih.gov/pubmed/1453426
Etiketler: Etiketle
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