title: Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.
authors.affiliation: Department of Gene Therapy, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo.
authors.forename: N
authors.initials: N
authors.lastname: Morokawa
authors.forename: S
authors.initials: S
authors.lastname: Iizuka
authors.forename: A
authors.initials: A
authors.lastname: Tanano
authors.forename: A
authors.initials: A
authors.lastname: Katsube
authors.forename: T
authors.initials: T
authors.lastname: Muraji
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
authors.forename: K
authors.initials: K
authors.lastname: Yoshimura
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008715:Methionine / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001120:Arginine; D008715:Methionine