Publication
Spectrum ofSMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease
Prajnya Ranganath, Divya Matta, Gandham SriLakshmi 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 Tilak, Shubha R. Phadke, Ashwin Dalal
American Journal of Medical Genetics Part A, June 2016, Wiley
DOI: 10.1002/ajmg.a.37817