Title : Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Pub. Date : 2010 Sep

PMID : 20175788






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). G(M1) Ganglioside galactosidase beta 1 Homo sapiens
2 GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). G(M1) Ganglioside galactosidase beta 1 Homo sapiens
3 More than 100 sequence alterations in the GLB1 gene have been identified so far, but only few could be proven to be predictive for one of the GM1 gangliosidosis subtypes or MBD. G(M1) Ganglioside galactosidase beta 1 Homo sapiens