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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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
Soggetti:
Accesso online: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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