Article

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

2021-02-24

Abstract excerpt

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. Gene analyses were performed for 244 pedigrees. There are 130 families, chorionic villus sampling was performed on the pregnant women to conduct the prenatal diagnosis. Among 244 patients, 168 (68.9%) c...

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Literature Corpus work: 92b92401-c7ac-562c-b917-44bd88708032
DOI: 10.21203/rs.3.rs-249909/v1

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