Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination
Sato, Ryo, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Matsuhashi, Tetsuro, Numata-Uematsu, Yurika, Uematsu, Mitsugu, Fujii, Yuji, Murayama, Kei, Ohtake, Akira, Abe, Takaaki, Kure, ShigeoМова:
english
Журнал:
Clinical Genetics
DOI:
10.1111/cge.13068
Date:
June, 2017
Файл:
PDF, 1.41 MB
english, 2017
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