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 Disease (NPD)

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 Disease (NPD)

Background: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. Methods: In order to determine the prevalence and distribution of...

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Bibliographic Details
Main Authors: Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Fatemeh Keshavarzi, Omid Aryani, Sepideh Dadgar, Ahoora Arastehkani, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand
Format: Article
Language:English
Published: MDPI AG 2015-03-01
Series:International Journal of Molecular Sciences
Subjects:
types A and B niemann-pick disease (NPD)
sphingomyelin phosphodiesterase 1 (SMPD1) gene
acid sphingomyelinase (ASM)
p.G508R
p.N385K and p.V36A
c.1033–1034insT and c.1417–1418delCT
Online Access:http://www.mdpi.com/1422-0067/16/4/6668

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