A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.
Seydewitz
H H
HH
Children's Hospital, University Freiburg, Germany.
Gonska
T
T
Mall
M
M
Kueh
J
J
D000293:Adolescent; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D017384:Sequence Deletion / Q000235:genetics
C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator