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Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism
Lenz-Majewski syndrome (LMS) is a rare disease presenting with complex physical and mental abnormalities. Whole exome sequencing performed on five LMS-affected individuals has identified gain-of-function mutations in the PTDSS1 gene encoding phosphatidylserine synthase 1 (PSS1) enzyme. These mutatio...
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| Publicado no: | J Rare Dis Res Treat |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6404757/ https://ncbi.nlm.nih.gov/pubmed/30854527 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29245/2572-9411/2017/1.1080 |
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