Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients’...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Chen, Hui, Zhou, Xueya, Wang, Jing, Wang, Xi, Liu, Liyang, Wu, Shinan, Li, Tengyan, Chen, Si, Yang, Jingwen, Sham, Pak Chung, Zhu, Guangming, Zhang, Xuegong, Wang, Binbin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4876459/
https://ncbi.nlm.nih.gov/pubmed/27212199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26362
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