Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
Journal of inherited metabolic disease2015Wang XL, Li CJ, Xing Y, et al.
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MeSH
AdultAmino Acid Metabolism, Inborn ErrorsAmino Acids, Branched-ChainBase SequenceHumansIntellectual DisabilityMaleMaple Syrup Urine DiseaseMinor Histocompatibility AntigensMolecular Sequence DataMutation, MissensePregnancy ProteinsSeizuresTransaminasesValine
DOI 10.1007/s10545-015-9814-z
PMID 25653144
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