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

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Bibliographic Details
Published in:Human mutation 2000-05, Vol.15 (5), p.485-485
Main Authors: Morokawa, Nasa, Iizuka, Sayoko, Tanano, Akihide, Katsube, Atsushi, Muraji, Toshihiro, Eto, Yoshikatsu, Yoshimura, Kunihiko
Format: Article
Language:English
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
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ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU20>3.0.CO;2-9