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

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 mi...

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Bibliographic Details
Main Authors: Cosima Rhein, Christiane Mühle, Johannes Kornhuber, Martin Reichel
Format: Article
Language:English
Published: MDPI AG 2015-06-01
Series:International Journal of Molecular Sciences
Subjects:
gene variant
missense mutation
Niemann-Pick disease
polymorphism
sphingomyelin phosphodiesterase
Online Access:http://www.mdpi.com/1422-0067/16/6/13649

Internet

http://www.mdpi.com/1422-0067/16/6/13649

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