A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Nunes
V
V
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
Chillón
M
M
Dörk
T
T
Tümmler
B
B
Casals
T
T
Estivill
X
X
D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005838:Genotype; D005971:Glutamates; D018698:Glutamic Acid; D006801:Humans; D008239:Lysine; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D003062:Codon; D005971:Glutamates; D008565:Membrane Proteins; D009838:Oligodeoxyribonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D018698:Glutamic Acid; D008239:Lysine