A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the sp...

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Detalhes bibliográficos
Main Authors: Becerra-Solano, L.E., Butler, J., Castañeda-Cisneros, G., McCloskey, D.E., Wang, X., Pegg, A.E., Schwartz, C.E., Sánchez-Corona, J., García-Ortiz, J.E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2653108/
https://ncbi.nlm.nih.gov/pubmed/19206178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32641
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