Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease

Prajnya Ranganath, Divya Matta, Gandham Sri Lakshmi Bhavani, Savita Wangnekar, Jamal Mohammed Nurul Jain, Ishwar C. Verma, Madhulika Kabra, Ratna Dua Puri, Sumita Danda, Neerja Gupta, Katta M. Girisha, Vaikom H. Sankar, Siddaramappa J. Patil, Akella Radha Ramadevi, Meenakshi Bhat, Kalpana Gowrishankar, Kausik Mandal, Shagun Aggarwal, Parag Mohan Tamhankar, Preetha TilakShubha R. Phadke, Ashwin Dalal

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Biochemistry, Genetics and Molecular Biology