Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutat...

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Detalles Bibliográficos
Autores principales: Choe, Young June, Ko, Jae Sung, Seo, Jeong Kee, Han, Jae Jun, Shim, Jung Ok, Koh, Young Yull, Lee, Ran, Ki, Chang-Seok, Kim, Jong-Won, Kim, Jung Ho
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/PMC2800015/
https://www.ncbi.nlm.nih.gov/pubmed/20052365
http://dx.doi.org/10.3346/jkms.2010.25.1.163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800015/
https://www.ncbi.nlm.nih.gov/pubmed/20052365
http://dx.doi.org/10.3346/jkms.2010.25.1.163

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