تصفح Faculty Contributions حسب الموضوع "D2HGDH"

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Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.

Thirumal Kumar, D; Jerushah Emerald, L; George Priya Doss, C; Sneha, P; Siva, R; Charles Emmanuel Jebaraj, W; Zayed, Hatem... more authors ... less authors ( Springer US , 2018 , Article)
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes ...