Učitavanje...
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C>T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Pre...
Spremljeno u:
| Glavni autori: | , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2012
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3421124/ https://ncbi.nlm.nih.gov/pubmed/22395865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.39 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|