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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Oct 2017

Hu Ping, Qiao Fengchang, Yuan Yuan, Sun Ruihong, Wang Yan, Meng Lulu, Lin Ying, Li Hang, Wang Yaoshen, Han Rui, Liang Dong, Ma Dingyuan, Jiang Tao, Jiang Hui, Xu Zhengfeng

Abstract excerpt

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 system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and...

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PMID: 29037559
DOI: 10.1016/j.tjog.2017.08.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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