Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA

Aim: We aimed to demonstrate noninvasive prenatal diagnosis (NIPD) of hemophilia A (HA) using a haplotype-based approach. Methods: Two families at risk for HA were recruited for this study. First, maternal haplotypes associated with pathogenic variants were constructed using the genotypes of the mot...

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Bibliographische Detailangaben
Veröffentlicht in:BioTechniques. - 1991. - 68(2020), 3 vom: 03. März, Seite 117-121
1. Verfasser: Chen, Chao (VerfasserIn)
Weitere Verfasser: Sun, Jun, Yang, Yun, Jiang, Lu, Guo, Fengyu, Zhu, Yaping, Li, Dan, Wu, Renhua, Lu, Rong, Zhao, Mei, Chen, Fang, Ni, Peixiang, He, Zhihui, Peng, Zhiyu
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:BioTechniques
Schlagworte:Journal Article Research Support, Non-U.S. Gov't factor VIII haplotype hemophilia A noninvasive prenatal diagnosis targeted sequencing Cell-Free Nucleic Acids