Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile

Hum Genet. 2005 May;116(6):542.

Authors

A Drousiotou¹, 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: 15991326

No abstract available

MeSH terms

Amino Acid Substitution
Codon, Nonsense*
Gangliosidosis, GM1 / genetics*
Humans
beta-Galactosidase / genetics*

Substances

Codon, Nonsense
GLB1 protein, human
beta-Galactosidase