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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Detalles Bibliográficos
Autores principales: Ye, Jun, Chen, Chao, Yuan, Yuan, Han, Lianshu, Wang, Yaoshen, Qiu, Wenjuan, Zhang, Huiwen, Asan, Gu, Xuefan
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/PMC5760544/
https://www.ncbi.nlm.nih.gov/pubmed/29317692
http://dx.doi.org/10.1038/s41598-017-18358-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760544/
https://www.ncbi.nlm.nih.gov/pubmed/29317692
http://dx.doi.org/10.1038/s41598-017-18358-y

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