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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811538/ https://www.ncbi.nlm.nih.gov/pubmed/29440752 http://dx.doi.org/10.1038/s41598-018-21236-w

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