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Myotonia congenita: novel mutations in CLCN1 gene
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and...
Shranjeno v:
| izdano v: | Channels (Austin) |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Taylor & Francis
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4826137/ https://ncbi.nlm.nih.gov/pubmed/26260254 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2015.1075676 |
| Oznake: |
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