Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Journal of human genetics - 1 Apr 2014
Ankleshwaria Chitra, Mistri Mehul, Bavdekar Ashish, Muranjan Mamta, Dave Usha, Tamhankar Parag, Khanna Varun, Jasinge Eresha, Nampoothiri Sheela, Edayankara Kadangot Suresh, Sheth Frenny, Gupta Sarita, Sheth Jayesh
Abstract excerpt
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene. Study was performed in 33 unrelated patients with low β-glucosidase activity in leukocytes and/or fibroblasts. The exons and exon-intron boundaries of the GBA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and were...
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