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Three novel β‐hexosaminidase a mutations in obligate carriers of Tay‐Sachs disease
Author(s) -
Tomczak Jerzy,
Grebner Eugene E.
Publication year - 1994
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.1380040112
Subject(s) - biology , obligate , tay sachs disease , hexosaminidase , genetics , mutation , disease , gene , ecology , biochemistry , enzyme , medicine