title: Missense variation of the CFTR gene codon 507.
authors.affiliation: Department of Human Genetics, Medical School, Hannover, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Will
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: H
authors.initials: H
authors.lastname: Ellemunter
authors.forename: N
authors.initials: N
authors.lastname: Hoffknecht
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: 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*
chemical_list: C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator