A novel homozygous missense mutation in L-2-HGA gene: A case report
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference16 articles.
1. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?;Duran;J. Inherit. Metab. Dis.,1980
2. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria;Peng;BMC Med. Genet,2018
3. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1;Topçu;Hum. Mol. Genet,2004
4. Organic acid analysis;Sweetman,1991
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med.,2015
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