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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma

Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting hi...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Ye, Jun, Chen, Chao, Yuan, Yuan, Han, Lianshu, Wang, Yaoshen, Qiu, Wenjuan, Zhang, Huiwen, Asan, Gu, Xuefan
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5760544/
https://ncbi.nlm.nih.gov/pubmed/29317692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-18358-y
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