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Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and “modifier” polymorphisms
Author(s) -
Montfort Magda,
Chabás Amparo,
Vilageliu Lluïsa,
Grinberg Daniel
Publication year - 2005
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.20219
Subject(s) - biology , mutant , genetics , gene