Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population

BACKGROUND: At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long-read single-molecule sequencing with high detection accura...

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Detalles Bibliográficos
Autores principales: Bao, Xiuqin, Wang, Jicheng, Qin, Danqing, Yao, Cuize, Liang, Jie, Liang, Kailing, Zeng, Yukun, Du, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127377/
https://www.ncbi.nlm.nih.gov/pubmed/37098594
http://dx.doi.org/10.1186/s40246-023-00486-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127377/
https://www.ncbi.nlm.nih.gov/pubmed/37098594
http://dx.doi.org/10.1186/s40246-023-00486-4

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