Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas
M J
MJ
Genetic Department, Fundación Jiménez Díaz, Spain. mjtrujillo@fjd.es
Gallego
J
J
García
M
M
Lorda-Sanchez
I
I
Ramos
C
C
Ayuso
C
C
D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D003062:Codon; D019005:Cystic Fibrosis Transmembrane Conductance Regulator