Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease

Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. Here we report the identification, characterization and genotype/phenotype correlations of eight novel mutations in six...

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Main Authors: Desnick, Jonathan P, Kim, Jungmin, He, Xingxuan, Wasserstein, Melissa P, Simonaro, Calogera M, Schuchman, Edward H
Formato: Artigo
Idioma:Inglês
Publicado em: ScholarOne 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896470/
https://ncbi.nlm.nih.gov/pubmed/20386867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2010.00017
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