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Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

BACKGROUND: Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are reported to be associated with a severe reduction in plasma high-density lipoprote...

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Detalles Bibliográficos
Autores principales:	Dastani, Zari, Ruel, Isabelle L, Engert, James C, Genest, Jacques, Marcil, Michel
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2007
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2241771/ https://www.ncbi.nlm.nih.gov/pubmed/18088425 http://dx.doi.org/10.1186/1471-2350-8-79

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