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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...
Autores principales: | Shao, Hongxia, Hua, Jingna, Wu, Qi, Li, Xiaoge, Zhang, Ming, Wang, Herong, Wu, Junping, Xu, Long, Xie, Yi, Li, Li, Chen, Huaiyong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
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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 |
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