Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.
Morokawa
N
N
Department of Gene Therapy, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo.
Iizuka
S
S
Tanano
A
A
Katsube
A
A
Muraji
T
T
Eto
Y
Y
Yoshimura
K
K
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*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001120:Arginine; D008715:Methionine