Associated Papers
Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.
Hua R et al.
Human Genomics, 2025
Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region.
Ye L et al.
Hemoglobin, 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
39737841 (PubMed )
Supplement: ADVS-12-2410992-s004.xlsx › Sheet1
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.
Zhuang J et al.
Bmc Medical Genomics, 2024
Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.
Long J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Xu Z et al.
Archives of Pathology & Laboratory Medicine, 2024
The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.
Feng J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.
Asghari Ahmadabad M et al.
Frontiers in Pediatrics, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBA2
Molecular Genetic Analysis of α-Thalassemia in Hamadan Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi.
Pang W et al.
Gene, 2016
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