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Myotonic Dystrophy

Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. Myotonic dystrophy type 1 (DM1) was first described over a century ago. DM1 is caused by expansion of a CTG triplet repeat in the 3' non-coding region of DMPK,...

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Bibliografiske detaljer
Hovedforfatter: Thornton, Charles A.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4105852/
https://ncbi.nlm.nih.gov/pubmed/25037086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ncl.2014.04.011
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