Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Hum Genet
.
2005 May;116(6):542.
Authors
A Drousiotou
1
,
T Georgiou
,
A Drousiotou
,
Y Campos
,
A Caciotti
,
L Sztriha
,
A Gururaj
,
P Ozand
,
E Zammarchi
,
A Morrone
,
A d Azzo
Affiliation
1
The Cyprus Institute of Neurology and Genetics.
PMID:
15991327
No abstract available
MeSH terms
Amino Acid Substitution
Gangliosidosis, GM1
Humans
Mutation, Missense*
beta-Galactosidase / genetics*
Substances
GLB1 protein, human
beta-Galactosidase