The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
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DOI: 10.3389/fgene.2022.854712
Abstract: Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal… read more here.
Keywords: amt gene; family; nonketotic hyperglycinemia; gene chinese ... See more keywords