Associated Papers
SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.
Wei X et al.
Prenatal Diagnosis, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations
A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual.
Yao C et al.
Hemoglobin, 2024
39103314 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F et al.
Frontiers in Genetics, 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-Full_dataset
Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.
Zhao Y et al.
Hemoglobin, 2020
Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.
Aliyeva G et al.
Hemoglobin, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
28865746 (PubMed )
Supplement: mmc1.docx
A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.
Xiong F et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Select a paper to view details