Cargando…
Identification of rare thalassemia variants using third-generation sequencing
Routine PCR, Sanger sequencing, and specially designed GAP-PCR are often used in the genetic analysis of thalassemia, but all these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) in s...
Autores principales: | Liu, Qin, Chen, Qianting, Zhang, Zonglei, Peng, Shiyi, Liu, Jing, Pang, Jialun, Jia, Zhengjun, Xi, Hui, Li, Jiaqi, Chen, Libao, Liu, Yinyin, Peng, Ying |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845392/ https://www.ncbi.nlm.nih.gov/pubmed/36685902 http://dx.doi.org/10.3389/fgene.2022.1076035 |
Ejemplares similares
-
Detection of four rare thalassemia variants using Single-molecule realtime sequencing
por: Luo, Shiqiang, et al.
Publicado: (2022) -
Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia
por: Zhong, Guoxing, et al.
Publicado: (2022) -
Analysis of rare thalassemia genetic variants based on third-generation sequencing
por: Peng, Cuiting, et al.
Publicado: (2022) -
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants
por: Jiang, Fan, et al.
Publicado: (2023) -
Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
por: Peng, Ying, et al.
Publicado: (2021)