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p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in CF transmembrane conductance regulator gene (CFTR). We and others previously identified CFTR mutations in 20 Chinese patients with CF. In this study, eight Chinese patients wi...

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Detalles Bibliográficos
Autores principales: Tian, Xinlun, Liu, Yaping, Yang, Jun, Wang, Han, Liu, Tao, Xu, Wenbing, Li, Xue, Zhu, Yuanjue, Xu, Kai-Feng, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785583/
https://www.ncbi.nlm.nih.gov/pubmed/27081564
http://dx.doi.org/10.1038/hgv.2015.63