Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong
Lee-Jun C
LJ
Alper
Ozgül M
OM
Wang
Bao-Tyan
BT
Lee
Mei-Hui
MH
Lo
Shin-Yu
SY
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005202:Asia, Eastern; D017809:Fatal Outcome; D016368:Frameshift Mutation; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013624:Taiwan
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator