A Rare Mutation C.1663g > A (p.a555t) in the MMUT Gene Associated with Mild Clinical and Biochemical Phenotypes of Methylmalonic Acidemia in 30 Chinese Patients
Orphanet Journal of Rare Diseases（2021）
关键词
Genotype,Methylmalonic acidemia,MMUT gene,Mutation,Newborn screening,Tandem mass spectrometry
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