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

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 haplotype...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Li, Haoxian, Du, Bole, Jiang, Fuman, Guo, Yulai, Wang, Yang, Zhang, Chunsheng, Zeng, Xiaojing, Xie, Yuhuan, Ouyang, Shuming, Xian, Yexing, Chen, Min, Liu, Weiqiang, Sun, Xiaofang
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825866/
https://ncbi.nlm.nih.gov/pubmed/31566929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.963
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