A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies. Here, we report a five-generation family of eight affected individuals with CMT disease type 2, CMT2. Genome-wide linkage analysis showed that the disease phenotype is closely lin...

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Detaylı Bibliyografya
Asıl Yazarlar: Xu, Wang-yang, Gu, Ming-min, Sun, Lian-hua, Guo, Wen-ting, Zhu, Hou-bao, Ma, Jian-fang, Yuan, Wen-tao, Kuang, Ying, Ji, Bao-jun, Wu, Xiao-lin, Chen, Yan, Zhang, Hong-xin, Sun, Fu-ting, Huang, Wei, Huang, Lei, Chen, Sheng-di, Wang, Zhu-gang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2012
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516600/
https://ncbi.nlm.nih.gov/pubmed/23141294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.018
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