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The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.

Taiwanese journal of obstetrics & gynecology - 1 Mar 2022

Hu Shuang, Kong Xiangdong

Abstract excerpt

OBJECTIVES: To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees. MATERIALS AND METHODS: Gene analyses were performed for 244 pedigrees. There are 130 pedigrees, chorionic villus sampling was performed on the pregnant women to conduct the prenatal...

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PMID: 35361390
DOI: 10.1016/j.tjog.2022.02.017

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