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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Publicat a:Hum Mutat
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6619364/
https://ncbi.nlm.nih.gov/pubmed/30908763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23751
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