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-HBB
A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C].
Xu AP et al.
Hemoglobin, 2018
Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain.
Xu AP et al.
Hemoglobin, 2018
Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient.
Ghaber SM et al.
Hemoglobin, 2018
Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.
Pianezze G et al.
Hemoglobin, 2016
Hb Feilding [β12(A9)Thr → Pro; HBB: c.37A>C]: a novel unstable β-globin chain variant.
Ghallyan N et al.
Hemoglobin, 2015
Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12.
Brennan SO et al.
Hemoglobin, 2014
Select a paper to view details