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Accurate genotype diagnosis of Hong Kongαα thalassemia based on third-generation sequencing
BACKGROUND: The Hong Kongαα (HKαα) allele is a complex structural rearrangement of the α-globin gene containing -α(3.7) and ααα(anti 4.2 )crossover junctions. Clinically, individuals carrying the HKαα allele are often misdiagnosed or missed using conventional thalassemia gene detection technology. T...
Autores principales: | Li, Jun, Ye, Guimei, Zeng, Dan, Tian, Baodong, Wang, Wenjuan, Feng, Qiao, Zhu, Chunjiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9652573/ https://www.ncbi.nlm.nih.gov/pubmed/36388814 http://dx.doi.org/10.21037/atm-22-4309 |
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