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...
Détails bibliographiques
| Publié dans: | BioTechniques. - 1991. - 68(2020), 3 vom: 03. März, Seite 117-121
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| Auteur principal: |
Chen, Chao
(Auteur) |
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| Autres auteurs: |
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 |
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| Format: | Article en ligne
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| Langue: | English |
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| Publié: |
2020
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| Accès à la collection: | BioTechniques
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| Sujets: | Journal Article
Research Support, Non-U.S. Gov't
factor VIII
haplotype
hemophilia A
noninvasive prenatal diagnosis
targeted sequencing
Cell-Free Nucleic Acids |
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