Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband

Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband

Abstract Background β‐thalassemia is one of the most common monogenic diseases in the world. Southeast China is a highly infected area affected by four β‐thalassemia mutation types (HBB:c.‐78A>G, HBB:c.52A>T, HBB:c.126_129delCTTT, and HBB:c.316‐197C>T). Relative haplotype dosage (RHDO), a h...

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Bibliographic Details
Main Authors: Haoxian Li, Bole Du, Fuman Jiang, Yulai Guo, Yang Wang, Chunsheng Zhang, Xiaojing Zeng, Yuhuan Xie, Shuming Ouyang, Yexing Xian, Min Chen, Weiqiang Liu, Xiaofang Sun
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cell‐free fetal DNA
haplotype
noninvasive prenatal diagnosis
relative haplotype dosage
β‐thalassemia
Online Access:https://doi.org/10.1002/mgg3.963

Internet

https://doi.org/10.1002/mgg3.963

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