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...
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 |