@article{ATM28531,
author = {Laszlo Prokai},
title = {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},
journal = {Annals of Translational Medicine},
volume = {7},
number = {Suppl 6},
year = {2019},
keywords = {},
abstract = {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.},
issn = {2305-5847}, url = {https://atm.amegroups.org/article/view/28531}
}