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

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

Abstract 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 f...

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Autores principales: Dingyuan Ma, Yuan Yuan, Chunyu Luo, Yaoshen Wang, Tao Jiang, Fengyu Guo, Jingjing Zhang, Chao Chen, Yun Sun, Jian Cheng, Ping Hu, Jian Wang, Huanming Yang, Xin Yi, Wei Wang, Asan, Zhengfeng Xu
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/6f8ea90d5ab74192bfe5b60cee12ff4b
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