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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Publicado no:Int J Mol Sci
Main Authors: Manshadi, Masoumeh Dehghan, Kamalidehghan, Behnam, Keshavarzi, Fatemeh, Aryani, Omid, Dadgar, Sepideh, Arastehkani, Ahoora, Tondar, Mahdi, Ahmadipour, Fatemeh, Meng, Goh Yong, Houshmand, Massoud
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424982/
https://ncbi.nlm.nih.gov/pubmed/25811928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms16046668
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