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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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| Vydáno v: | Int J Mol Sci |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI
2015
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| Témata: | |
| On-line přístup: | 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 |
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