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Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

Missense mutations in spermine synthase (SpmSyn) protein have been shown to cause the Snyder-Robinson syndrome (SRS). Depending on the location within the structure of SpmSyn and type of amino acid substitution, different mechanisms resulting in SRS were proposed. Here we focus on naturally occurrin...

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Detalles Bibliográficos
Autores principales: Peng, Yunhui, Norris, Joy, Schwartz, Charles, Alexov, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730321/
https://www.ncbi.nlm.nih.gov/pubmed/26761001
http://dx.doi.org/10.3390/ijms17010077