Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease

Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missen...

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Detalles Bibliográficos
Autores principales: Rhein, Cosima, Mühle, Christiane, Kornhuber, Johannes, Reichel, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490514/
https://www.ncbi.nlm.nih.gov/pubmed/26084044
http://dx.doi.org/10.3390/ijms160613649

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490514/
https://www.ncbi.nlm.nih.gov/pubmed/26084044
http://dx.doi.org/10.3390/ijms160613649

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