A carregar...
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...
Na minha lista:
| Publicado no: | Int J Mol Sci |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4490514/ https://ncbi.nlm.nih.gov/pubmed/26084044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms160613649 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|