Missense variation of the CFTR gene codon 507.
Will
K
K
Department of Human Genetics, Medical School, Hannover, Germany.
Stuhrmann
M
M
Ellemunter
H
H
Hoffknecht
N
N
Schmidtke
J
J
D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*
C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator