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Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms

OBJECTIVE: Pompe disease (PD) is a progressive neuromuscular disorder that is caused by glucosidase acid alpha (GAA) deleterious mutations. Mitochondrial involvement is an important contributor to neuromuscular diseases. In this study the sequence of MT-ATP 6/8 and Cytochrome C oxidase I/II genes al...

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Detaylı Bibliyografya
Yayımlandı:Cell J
Asıl Yazarlar: Bahreini, Fatemeh, Houshmand, Massoud, Modarressi, Mohammad Hossein, Akrami, Seyed Mohammad
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Royan Institute 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6004991/
https://ncbi.nlm.nih.gov/pubmed/29845786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22074/cellj.2018.5238
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