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...

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Detalles Bibliográficos
Autores principales: Li, Jun, Ye, Guimei, Zeng, Dan, Tian, Baodong, Wang, Wenjuan, Feng, Qiao, Zhu, Chunjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Original Article
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

Internet

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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