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Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by genetic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is a common hereditary disease in Caucasians while rare in the Chinese. Until now, only 87 Chinese patients have been reported with...

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Detalles Bibliográficos
Autores principales: Yang, Binyi, Lei, Cheng, Yang, Danhui, Tan, Zhiping, Guo, Ting, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283821/
https://www.ncbi.nlm.nih.gov/pubmed/34276759
http://dx.doi.org/10.3389/fgene.2021.631221