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

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

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

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Bibliographic Details
Main Authors: Madhumathi eManickam, Palaniyandi eRavanan, Pratibha eSingh, Deepesh eTourani, Priti eTalwar
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-05-01
Series:Frontiers in Genetics
Subjects:
SIFT
Glucocerebrosidase
MutPred
nsSNP
Deleterious SNP
PANTHER
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00148/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00148/full

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