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Polyamine Homeostasis in Snyder-Robinson Syndrome
Loss-of-function mutations of the spermine synthase gene (SMS) result in Snyder-Robinson Syndrome (SRS), a recessive X-linked syndrome characterized by intellectual disability, osteoporosis, hypotonia, speech abnormalities, kyphoscoliosis, and seizures. As SMS catalyzes the biosynthesis of the polya...
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| Publicado no: | Med Sci (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6318755/ https://ncbi.nlm.nih.gov/pubmed/30544565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medsci6040112 |
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