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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Detalles Bibliográficos
Autores principales: Gee, Heon Yung, Kim, Chang Keun, Kim, So Won, Lee, Ji Hyun, Kim, Jeong-Ho, Kim, Kyung Hwan, Lee, Min Goo
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800016/
https://www.ncbi.nlm.nih.gov/pubmed/20052366
http://dx.doi.org/10.3346/jkms.2010.25.1.166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800016/
https://www.ncbi.nlm.nih.gov/pubmed/20052366
http://dx.doi.org/10.3346/jkms.2010.25.1.166

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