TY - JOUR AU - Prokai, Laszlo PY - 2019 TI - Rapid and accurate diagnosis of hemoglobinopathy and β-thalassemia by ultrahigh-resolution mass spectrometry and tandem mass spectrometry from blood: review of a benchmark study JF - Annals of Translational Medicine; Vol 7, Supplement 6 (September 20, 2019): Annals of Translational Medicine Y2 - 2019 KW - N2 - Many point mutations of the human hemoglobin (Hb) genes have been documented (1-4) and, without a doubt, more remain to be identified. Most of the mutations are single base replacements in the genes and, thus, result in single amino acid substitutions in the corresponding globin chains. UR - https://atm.amegroups.org/article/view/28531