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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1992
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016170/
https://ncbi.nlm.nih.gov/pubmed/1453426
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