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Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β‐glucocerebrosidase gene in Gaucher's disease patients
Author(s) -
Cormand Bru,
Vilageliu Lluïsa,
Balcells Susana,
GonzàlezDuarte Roser,
Chabás Amparo,
Grinberg Daniel
Publication year - 1996
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(1996)7:3<272::aid-humu14>3.0.co;2-#
Subject(s) - glucocerebrosidase , biology , exon , gaucher's disease , genetics , gene , disease , mutation , pathology , medicine