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

Human mutation

Volumn 15, Issue 5, 2000, Pages 485-

  Morokawa, N ^a   Iizuka, S ^a   Tanano, A ^a   Katsube, A ^a   Muraji, T ^a   Eto, Y ^a   Yoshimura, K ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CFTR PROTEIN, HUMAN; METHIONINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CYSTIC FIBROSIS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HUMAN; MISSENSE MUTATION;

AMINO ACID SUBSTITUTION; ARGININE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; METHIONINE; MUTATION, MISSENSE;

EID: 0034183312     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU20>3.0.CO;2-9     Document Type: Article

References (0)