In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.
Meitinger
T
T
Abteilung für Pädiatrische Genetik, Kinderpoliklinik, Universität München, Germany.
Golla
A
A
Dörner
C
C
Deufel
A
A
Aulehla-Scholz
C
C
Böhm
I
I
Reinhardt
D
D
Deufel
T
T
D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
C505032:CFTR protein, human; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA