Ontology highlight
ABSTRACT:
SUBMITTER: Manickam M
PROVIDER: S-EPMC4034330 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Manickam Madhumathi M Ravanan Palaniyandi P Singh Pratibha P Talwar Priti P
Frontiers in genetics 20140527
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 disease. We hypothesize that prediction of SNPs using multiple state of the art software tools will help in increasing the confidence in identification of SNPs involved in GD. Enzyme replacement therapy is ...[more]