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Article

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

Journal of human genetics - 1 Apr 2022

Luo Shiqiang, Chen Xingyuan, Zeng Dingyuan, Tang Ning, Yuan Dejian, Zhong Qingyan, Mao Aiping, Xu Ruofan, Yan Tizhen

Abstract excerpt

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 cohort, then used SMRT technology and conventional gene diagnosis technology [(Gap-PCR, multiple ligation probe...

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Identifiers

PMID: 34690349
DOI: 10.1038/s10038-021-00983-1
PMCID: PMC8948088

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