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Genet Med. 2000 Nov-Dec;2(6):319-27.

The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.

Author information

1
Department of Biology, McGill University, Montreal, Quebec, Canada.

Abstract

The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data.mch.mcgill.ca/gm2-gangliosidoses). Submission forms are available for the addition of new mutations to the databases. The databases are available online for users to search and retrieve information about specific alleles by a number of fields describing mutations, phenotypes, or author(s).

PMID:
11339652
DOI:
10.109700125817-200011000-00003
[Indexed for MEDLINE]

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