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GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
BACKGROUND: GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. CASE PRESENTAT...
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| Publicado no: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4939586/ https://ncbi.nlm.nih.gov/pubmed/27402091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-016-0626-6 |
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