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A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis
Author(s) -
Padoan Rita,
Bassotti Alessandra,
Seia Manuela,
Ambrosioni Antonella,
Fiori Sabrina,
Prandoni Silvia,
Rajnoldi Angelo Cantù,
Giunta Annamaria,
Corbetta Carlo
Publication year - 2000
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(200005)15:5<485::aid-humu22>3.0.co;2-3
Subject(s) - biology , gynecology , metabolic alkalosis , missense mutation , mutation , genetics , medicine , physiology , gene