title: A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.
authors.forename: K
authors.initials: K
authors.lastname: Yoshimura
authors.forename: Y
authors.initials: Y
authors.lastname: Wakazono
authors.forename: S
authors.initials: S
authors.lastname: Iizuka
authors.forename: N
authors.initials: N
authors.lastname: Morokawa
authors.forename: H
authors.initials: H
authors.lastname: Tada
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000293:Adolescent; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007564:Japan; D020125:Mutation, Missense; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator