The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest ra...

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Detalhes bibliográficos
Main Authors: Gee, Heon Yung, Kim, Chang Keun, Kim, So Won, Lee, Ji Hyun, Kim, Jeong-Ho, Kim, Kyung Hwan, Lee, Min Goo
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2010
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2800016/
https://ncbi.nlm.nih.gov/pubmed/20052366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.1.166
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