Associated Papers
A Hemoglobin Variant, Resulting from a Novel Missense Mutation [CD 112(G14) Cys > Ser (TGT > TCT); HBB: C.338G > C], Was Discovered by MALDI-TOF MS.
Xie W et al.
Hemoglobin, 2025
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
Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.
Navío D et al.
International Journal of Molecular Sciences, 2019
HUMA: A platform for the analysis of genetic variation in humans.
Brown DK et al.
Human Mutation, 2018
Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].
Renoux C et al.
Hemoglobin, 2015
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