Genetic studies of Maple syrup urine disease
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP270229
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资源简介：
Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism. MSUD is caused by mutations in the BCKDHA, BCKDHB, and DBT genes. This study presents clinical characteristics and mutational analyses of MSUD in a Chinese female newborn.
创建时间：
2021-03-03
