https://www.selleckchem.com/pr....oducts/sb-505124.htm
To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis. Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. 25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and three probands were found to carry heterozygous MMACHC exonic deletion. The overall diagnostic yield was 90.32%. NGS can improve the detection rate for methy
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