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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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Datar, Chaitanya, Mistri, Mehul, Bhavsar, Riddhi, Sheth, Frenny, Shah, Krati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939586/
https://www.ncbi.nlm.nih.gov/pubmed/27402091
http://dx.doi.org/10.1186/s12887-016-0626-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939586/
https://www.ncbi.nlm.nih.gov/pubmed/27402091
http://dx.doi.org/10.1186/s12887-016-0626-6

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