Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10

• Published in: Human mutation Vol. 15; no. 5; p. 485
• Main Authors: Morokawa, Nasa, Iizuka, Sayoko, Tanano, Akihide, Katsube, Atsushi, Muraji, Toshihiro, Eto, Yoshikatsu, Yoshimura, Kunihiko
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.05.2000; Hindawi Limited
• Subjects: ABCC7; Amino Acid Substitution - genetics; Arginine - genetics; CFTR; cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Female; Frameshift Mutation - genetics; Gene Deletion; Humans; Japanese; Methionine - genetics; Mutation, Missense - genetics