Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA

Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD). Noninvasive prenatal diagnosis (NIPD) of 21-OHD was based on 14 plasma samples collected from 12 families, including four plasm...

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Detalles Bibliográficos
Autores principales: Ma, Dingyuan, Yuan, Yuan, Luo, Chunyu, Wang, Yaoshen, Jiang, Tao, Guo, Fengyu, Zhang, Jingjing, Chen, Chao, Sun, Yun, Cheng, Jian, Hu, Ping, Wang, Jian, Yang, Huanming, Yi, Xin, Wang, Wei, Asan, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547133/
https://www.ncbi.nlm.nih.gov/pubmed/28785026
http://dx.doi.org/10.1038/s41598-017-06828-2

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