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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

BACKGROUND: Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were condu...

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Detalles Bibliográficos
Autores principales: Liu, Keqiang, Xu, Wenshuai, Xiao, Meng, Zhao, Xinyue, Bian, Chun, Zhang, Qianli, Song, Jiaxing, Chen, Keqi, Tian, Xinlun, Liu, Yaping, Xu, Kai-Feng, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7294671/
https://www.ncbi.nlm.nih.gov/pubmed/32539862
http://dx.doi.org/10.1186/s13023-020-01393-w