In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools

Gaucher's disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. Polymorphisms in GBA gene have been associated with the development of Gaucher d...

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Detalles Bibliográficos
Autores principales: Manickam, Madhumathi, Ravanan, Palaniyandi, Singh, Pratibha, Talwar, Priti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034330/
https://www.ncbi.nlm.nih.gov/pubmed/24904648
http://dx.doi.org/10.3389/fgene.2014.00148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034330/
https://www.ncbi.nlm.nih.gov/pubmed/24904648
http://dx.doi.org/10.3389/fgene.2014.00148

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