Associated Papers
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-HBA1
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 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
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
Waye JS et al.
Hemoglobin, 2016
Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R et al.
American Journal of Hematology, 2013
A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Von Kanel T et al.
American Journal of Hematology, 2013
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
Sligh JE et al.
The Journal of Biological Chemistry, 1992
Select a paper to view details