Young June Choe Jae Sung Ko Jeong Kee Seo Jae Jun Han Jung Ok Shim Young Yull Koh Ran Lee Chang-Seok Ki Jong-Won Kim Jung Ho Kim
10.3346/jkms.2010.25.1.163
J Korean Med Sci
2010 Jan;25(1):163-5.
cystic fibrosis cystic fibrosis conductance regulator exocrine pancreatic insufficiency mutation
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20052365/
Cystic Fibrosis / genetics Cystic Fibrosis Transmembrane Conductance Regulator / genetics Exocrine Pancreatic Insufficiency / genetics
Cystic Fibrosis / genetics Cystic Fibrosis Transmembrane Conductance Regulator / genetics Exocrine Pancreatic Insufficiency / genetics Case Reports Alternative Splicing Base Sequence Cystic Fibrosis / complications Cystic Fibrosis / diagnosis Diagnosis, Differential Exocrine Pancreatic Insufficiency / complications Exocrine Pancreatic Insufficiency / diagnosis Female Frameshift Mutation Humans Infant Republic of Korea Steatorrhea / diagnosis Cystic Fibrosis Transmembrane Conductance Regulator
PMC2800015
20052365
Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency
2010