Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
Drousiotou
A
A
The Cyprus Institute of Neurology and Genetics.
Georgiou
T
T
Drousiotou
A
A
Campos
Y
Y
Caciotti
A
A
Sztriha
L
L
Gururaj
A
A
Ozand
P
P
Zammarchi
E
E
Morrone
A
A
d Azzo
A
A
D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006801:Humans; D001616:beta-Galactosidase / Q000235:genetics*
D018389:Codon, Nonsense; C061901:GLB1 protein, human; D001616:beta-Galactosidase