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Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease

BACKGROUND: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth (CMT) disease and over 80 different mutations have been identified so far. This study analyzed the clinical and genetic characteristics of a Vietnamese CMT family that was affected by a novel GDA...

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Vydáno v:Biomed Res Int
Hlavní autoři: Mai, Phuong-Thao, Le, Dong-Truc, Nguyen, Tan-Trung, Le Gia, Hoang-Linh, Nguyen Le, Trung-Hieu, Le, Minh, Do, Duc-Minh
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6507255/
https://ncbi.nlm.nih.gov/pubmed/31179332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/7132494
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