Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
Romey
M C
MC
Laboratoire de Biochimie Génétique, Institut de Biologie Inserm U249, CNRS UPR 9008, Grepam, Montpellier, France.
Desgeorges
M
M
Ray
P
P
Godard
P
P
Demaille
J
J
Claustres
M
M
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator