The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and phenotypes of rare thalassemia gene variants, we used 434 cases with positive hematology screening as the coh...

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Detalles Bibliográficos
Autores principales: Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Zhong, Qingyan, Mao, Aiping, Xu, Ruofan, Yan, Tizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948088/
https://www.ncbi.nlm.nih.gov/pubmed/34690349
http://dx.doi.org/10.1038/s10038-021-00983-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948088/
https://www.ncbi.nlm.nih.gov/pubmed/34690349
http://dx.doi.org/10.1038/s10038-021-00983-1

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