Article
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).
International journal of molecular sciences - 24 Mar 2015
Manshadi Masoumeh Dehghan, Kamalidehghan Behnam, Keshavarzi Fatemeh, Aryani Omid, Dadgar Sepideh, Arastehkani Ahoora, Tondar Mahdi, Ahmadipour Fatemeh, Meng Goh Yong, Houshmand Massoud
Abstract excerpt
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 SMPD1 gene mutations, the genomic DNA of 15 unrelated Iranian patients with types A and B NPD was examined using...
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