Publication
Spectrum of mutations in the SMPD1
gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease
Prajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, Savita Wangnekar, Jamal Mohammed Nurul Jain, Ishwar C. Verma, Madhulika Kabra, Ratna D. Puri, Sumita Danda, Neerja Gupta, Katta M. Girisha, Vaikom H. Sankar, Siddaramappa J. Patil, Akella Radha Rama Devi, 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, February 2017, Wiley
DOI: 10.1002/ajmg.a.38040