Detection of four rare thalassemia variants using Single-molecule realtime sequencing

Conventional methods for the diagnosis of thalassemia include gap polymerase chain reaction (Gap-PCR), reverse membrane hybridization (RDB), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. In this study, we used single molecule real-time technology (SMRT) sequencing an...

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Detalles Bibliográficos
Autores principales: Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Liu, Bailing, Chen, Lizhu, Zhong, Qingyan, Li, Jiaqi, Liu, Yinyin, Chen, Jianping, Wang, Xiaoyuan, Yan, Tizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9493964/
https://www.ncbi.nlm.nih.gov/pubmed/36159974
http://dx.doi.org/10.3389/fgene.2022.974999

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