Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF.
Wong
L J
LJ
Wang
J
J
Bowman
C M
CM
D000483:Alleles; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator