Article

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

2018-09-24

Abstract excerpt

Methylmalonic acidemia (MMA) cblC type is the most frequent inborn error of intracellular cobalamin metabolism which is caused by mutations of MMACHC gene. Non-invasive test of MMA for pregnant women facilitates safe and timely prenatal diagnosis of the disease. In our study, we aimed to design and validate a haplotype-based noninvasive prenatal test (NIPT) method for cblC type of MMA. Targeted capture sequencing...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 48267424-b8ac-5754-855a-9d3c0dcb8e23
DOI: 10.1101/425918

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasmaDOI 10.1101/425918Read

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.Semantic proximity Read

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Semantic proximity Read

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysisSemantic proximity Read

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.Semantic proximity Read

[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia].Semantic proximity Read

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuriaSemantic proximity Read

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approachesSemantic proximity Read

[Application and the limitation of next generation sequencing for the diagnosis of methylmalonic acidemia].Semantic proximity Read

Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.Semantic proximity Read

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read

[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].Semantic proximity Read

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.Semantic proximity Read