Article
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
American journal of medical genetics. Part A - 1 Oct 2016
Ranganath Prajnya, Matta Divya, Bhavani Gandham SriLakshmi, Wangnekar Savita, Jain Jamal Mohammed Nurul, Verma Ishwar C, Kabra Madhulika, Puri Ratna Dua, Danda Sumita, Gupta Neerja, Girisha Katta M, Sankar Vaikom H, Patil Siddaramappa J, Ramadevi Akella Radha, Bhat Meenakshi, Gowrishankar Kalpana, Mandal Kausik, Aggarwal Shagun, Tamhankar Parag Mohan, Tilak Preetha, Phadke Shubha R, Dalal Ashwin
Abstract excerpt
Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 mutations have been reported in patients with ASM-deficient NPD world-wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients...
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