D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

D‐2‐hydroxyglutaric aciduria Type I (D‐2‐HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH gene encoding D‐2‐hydroxyglutarate dehydrogenase (D‐2‐HGDH). We and others detected 42 potentially pathogenic variants in D2HGDH of which 31 w...

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Detalles Bibliográficos
Autores principales: Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., van Dooren, Silvy J. M., Ozturk, Senay, van Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, van der Knaap, Marjo S., Gibson, K. Michael, van Schaftingen, Emile, Salomons, Gajja S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619364/
https://www.ncbi.nlm.nih.gov/pubmed/30908763
http://dx.doi.org/10.1002/humu.23751

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