Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Diseas...

by Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Fatemeh Keshavarzi, Omid Aryani, Sepideh Dadgar, Ahoora Arastehkani, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand
Published 2015-03-01