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Article

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

Scientific reports - 13 Feb 2018

Chang Mun Young, Ahn Soyeon, Kim Min Young, Han Jin Hee, Park Hye-Rim, Seo Han Kyu, Yoon Jinsun, Lee Seungmin, Oh Doo-Yi, Kang Changsoo, Choi Byung Yoon

Abstract excerpt

Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29440752
DOI: 10.1038/s41598-018-21236-w
PMCID: PMC5811538

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