Article
Recurrent and novel GLB1 mutations in India.
Gene - 10 Aug 2015
Bidchol Abdul Mueed, Dalal Ashwin, Trivedi Rakesh, Shukla Anju, Nampoothiri Sheela, Sankar V H, Danda Sumita, Gupta Neerja, Kabra Madhulika, Hebbar Shrikiran A, Bhat Ramesh Y, Matta Divya, Ekbote Alka V, Puri Ratna Dua, Phadke Shubha R, Gowrishankar Kalpana, Aggarwal Shagun, Ranganath Prajnya, Sharda Sheetal, Kamate Mahesh, Datar Chaitanya A, Bhat Kamalakshi, Kamath Nutan, Shah Hitesh, Krishna Shuba, Gopinath Puthiya Mundyat, Verma Ishwar C, Nagarajaram H A, Satyamoorthy Kapaettu, Girisha Katta Mohan
Abstract excerpt
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-d-galactosidase. In this study, we report molecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic seq...
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