A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Gomez-Lira
M
M
Istituto di Biologia e Genetica, Università di Verona, Italy.
Perusi
C
C
Brutti
N
N
Farnetani
M A
MA
Margollicci
M A
MA
Rizzuto
N
N
Pignatti
P F
PF
Salviati
A
A
D001483:Base Sequence; D005091:Exons; D054819:Hexosaminidase B; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D012497:Sandhoff Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases