Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2016
Konular:
Research Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990813/
https://ncbi.nlm.nih.gov/pubmed/27551684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001107
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