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c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature

BACKGROUND: Cystic fibrosis (CF) is rare in Asian populations relative to the Caucasian population. In this paper, we report the cystic fibrosis transmembrane conductance regulator (CFTR) variation in a family of Chinese CF patients, and systematically review the previous literature. CASE SUMMARY: H...

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Detalles Bibliográficos
Autores principales: Wang, Yu-Qing, Hao, Chuang-Li, Jiang, Wu-Jun, Lu, Yan-Hong, Sun, Hui-Quan, Gao, Chun-Yan, Wu, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6695543/
https://www.ncbi.nlm.nih.gov/pubmed/31423445
http://dx.doi.org/10.12998/wjcc.v7.i15.2110