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Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple malformation syndrome with neurocognitive impairment. SLOS arises from mutations in the 7-dehydrocholesterol reductase gene which results in impaired enzymatic conversion of 7-dehydrocholesterol to cholesterol. In the current work...
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| Publicado no: | Am J Med Genet A |
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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/PMC5028137/ https://ncbi.nlm.nih.gov/pubmed/27148958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37720 |
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