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Identification of a novel de novo mutation (G373D) in the α‐galactosidase A gene ( GLA ) in a patient affected with Fabry disease
Author(s) -
Germain Dominique P.,
Salard Dominique,
Fellmann Florence,
Azibi Kemal,
Caillaud Catherine,
Bernard MarieCharlotte,
Poenaru Livia
Publication year - 2001
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/humu.41
Subject(s) - biology , genetics