A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2017; you can also visit the original URL.
The file type is application/pdf.
Hb Evora [ 2-35 (B16), Ser->Pro], a novel hemoglobin variant associated with an -thalassemia phenotype
2007
Haematologica
Preserved Fulltext
Hb Évora [α α2-35 (B16), Ser→ →Pro], a novel hemoglobin variant associated with an α α-thalassemia phenotype We report a novel mutation in the α α2-globin gene, codon 35 (T→ →C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Évora. This variant seems to be responsible for the α α-thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably
doi:10.3324/haematol.10790
pmid:17296578
fatcat:skex5irgozguxkmc3kkivdyhou