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
Hb Kirikiriroa [α57(E6)Gly→Cys; HBA1: c.172G>T]: A Novel Unstable α-Globin Variant with Oxidized Derivatives Interfering with Hb A1c.
Moore JA et al.
Hemoglobin, 2022
Hb Waikato [α127(H10)Lys→Gln; HBA1: c.382A>C]: A Novel High Oxygen Affinity Variant.
Moore JA et al.
Hemoglobin, 2021
Hb Manitoba [α102(G9)Ser→Arg] in Pasifika: Tongan Case Report.
Pullon BM et al.
Hemoglobin, 2020
Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease.
Moore JA et al.
Hemoglobin, 2020
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
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene.
Brennan SO et al.
Hemoglobin, 2017
Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.
Sroymora S et al.
Hemoglobin, 2012
Select a paper to view details