Heon Yung Gee Chang Keun Kim So Won Kim Ji Hyun Lee Jeong-Ho Kim Kyung Hwan Kim Min Goo Lee
10.3346/jkms.2010.25.1.166
J Korean Med Sci
2010 Jan;25(1):166-71.
bronchiectasis cl- channel cystic fibrosis cystic fibrosis transmembrane conductance regulator korea
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20052366/
Cystic Fibrosis / genetics Cystic Fibrosis Transmembrane Conductance Regulator / genetics Mutation
Cystic Fibrosis / genetics Cystic Fibrosis Transmembrane Conductance Regulator / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Amino Acid Substitution Base Sequence Cell Line Child, Preschool Cystic Fibrosis / diagnosis Cystic Fibrosis Transmembrane Conductance Regulator / metabolism Female Humans Lung / diagnostic imaging Patch-Clamp Techniques Republic of Korea Tomography, X-Ray Computed Cystic Fibrosis Transmembrane Conductance Regulator
PMC2800016
20052366
The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis
2010