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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |