Myophosphorylase (PYGM) Mutations Determined by Next Generation Sequencing in a Cohort from Turkey with McArdle Disease

This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n=67) and unrelated healthy volunteers (n=53). The PYGM gene was sequenced with NGS and the observed mutatio...

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Publicado no:Neuromuscul Disord
Main Authors: Inal-Gültekin, Güldal, Toptaş-Hekimoğlu, Bahar, Görmez, Zeliha, Gelişin, Özlem, Durmuş, Hacer, Ergüner, Bekir, Demirci, Hüseyin, Sağıroğlu, Mahmut Ş., Parman, Yeşim, Deymeer, Feza, Yılmaz-Aydoğan, Hülya, Pençe, Sadrettin, Bekircan-Kurt, Can Ebru, Tan, Ersin, Erdem-Özdamar, Sevim, Üstek, Duran, Giger, Urs, Öztürk, Oğuz, Serdaroğlu-Oflazer, Piraye
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698850/
https://ncbi.nlm.nih.gov/pubmed/28967462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.06.004
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