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

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 t...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5811538/
https://ncbi.nlm.nih.gov/pubmed/29440752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-21236-w
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