ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro

Myotonic dystrophy type 2 (DM2) is caused by CCTG-repeat expansions. Occurrence of splicing and mutations in the muscle chloride channel gene CLCN1 have been reported to contribute to the phenotype. To examine the effect of CLCN1 in DM2 in Germany, we determined the frequency of a representative ClC...

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Autors principals: URSU, SIMONA-FELICIA, ALEKOV, ALEXI, MAO, NING-HUI, JURKAT-ROTT, KARIN
Format: Artigo
Idioma:Inglês
Publicat: Pacini Editore SpA 2012
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3476861/
https://ncbi.nlm.nih.gov/pubmed/23097607
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