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Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140
Author(s) -
Clavel Christine,
Pennaforte François,
Pigeon Frédérique,
Verlingue Claudine,
Birembaut Philippe,
Férec Claude
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:4<368::aid-humu13>3.0.co;2-0
Subject(s) - biology , cystic fibrosis transmembrane conductance regulator , regulator , identification (biology) , gene , genetics , cystic fibrosis , transmembrane protein , mutation , negative regulator , computational biology , microbiology and biotechnology , receptor , botany