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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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Detalhes bibliográficos
Publicado no:Med Sci (Basel)
Main Authors: Murray-Stewart, Tracy, Dunworth, Matthew, Foley, Jackson R., Schwartz, Charles E., Casero, Robert A.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
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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