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 inHuman 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
LanguageEnglish
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
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Bibliography:istex:7FA162FF1C9542EC709CDC0C74C390C2E53A7CC4
ark:/67375/WNG-CL26NZVP-C
ArticleID:HUMU20
Communicated by: R.G.H. Cotton
Human Mutation
Online Citation
http://journals.wiley.com/1059‐7794/pdf/mutation/mpr109.pdf
Mutation and Polymorphism Report #109 (2000) Online
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU20>3.0.CO;2-9