Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B

Objective: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. Case Report: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture...

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書誌詳細

主要な著者:	Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2017-10-01
シリーズ:	Taiwanese Journal of Obstetrics & Gynecology
主題:	Massively parallel sequencing Hemophilia B Noninvasive prenatal diagnosis Single-gene disorders Target-gene capture
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S1028455917302097
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