Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.
Golla
A
A
Abteilung für pädiatrische Genetik der Kinderpoliklinik, Ludwig-Maximilians-Universität München, Germany.
Deufel
A
A
Aulehla-Scholz
C
C
Böhm
I
I
Hilz
B
B
Meitinger
T
T
Deufel
T
T
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005796:Genes / Q000235:genetics; D005820:Genetic Testing; D005858:Germany; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA