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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...
Autores principales: | Manickam, Madhumathi, Ravanan, Palaniyandi, Singh, Pratibha, Talwar, Priti |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2014
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Materias: | |
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 |
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