A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Muzammal M, Ali MZ, Brugger B, Blatterer J, Ahmad S, Taj S, Shah SK, Khan S, Enzinger C, Petek E, Wagner K, Khan MA, Windpassinger C.
Muzammal M, et al. Among authors: windpassinger c.
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Metab Brain Dis. 2022.
PMID: 34719772
Free PMC article.