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Gangliosidosis (GM2, GM2A) is caused by a mutation in the GM2A gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | A1 |
| Mutation | c.516_519delGGTC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GM2, GM2A |
Informations générales
Gangliosidosis (GM2, GM2A) is caused by a mutation in the GM2A gene. This leads to progressive accumulation of GM2 ganglioside in neuronal lysosomes and subsequent fatal deterioration of central nervous system function. Also known as GM2 gangliosidosis type AB.
Caractéristiques cliniques
Symptômes nerveux centraux tels que l’incoordination locomoteur et la réponse exagérée de sursaération aux sons aigus. Les symptômes commencent généralement à apparaître vers l’âge de 14 mois.
Additional Information
Références
Pubmed ID: 16200419
Year published: 2005
Omia ID: 1427
Omia variant ID: 496