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A 48‐bp insertion between exon 13 and 14 of the HEXB gene causes infantile‐onset sandhoff disease
Author(s) -
GomezLira Macarena,
Perusi Chiara,
Brutti Nadia,
Farnetani M. Angela,
Margollicci M. Antonietta,
Rizzuto Nicolò,
Pignatti Pier Franco,
Salviati Alessandro
Publication year - 1995
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.1380060313
Subject(s) - sandhoff disease , biology , exon , genetics , gene