Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S., Jayesh Sheth, Mehul Mistri, Neerja Gupta, Madhulika Kabra, Shubha R. Phadke, Katta M. Girisha, Ratna Dua Puri, Shagun Aggarwal, Chaitanya Datar, Kausik Mandal, Preetha Tilak, Mamta Muranjan, Sunita Bijarnia-Mahay, Radha Rama Devi A., Naresh B. TayadeAkash Ranjan, Ashwin B. Dalal

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

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