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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population. Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. Materials and Methods. Cli...

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Detalles Bibliográficos
Autores principales: Shao, Hongxia, Hua, Jingna, Wu, Qi, Li, Xiaoge, Zhang, Ming, Wang, Herong, Wu, Junping, Xu, Long, Xie, Yi, Li, Li, Chen, Huaiyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229557/
https://www.ncbi.nlm.nih.gov/pubmed/32454915
http://dx.doi.org/10.1155/2020/6507583