Article
Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
PloS one - 1 Jan 2014
Koszarska Magdalena, Kucsma Nora, Kiss Katalin, Varady Gyorgy, Gera Melinda, Antalffy Geza, Andrikovics Hajnalka, Tordai Attila, Studzian Maciej, Strapagiel Dominik, Pulaski Lukasz, Tani Yoshihiko, Sarkadi Balazs, Szakacs Gergely
Abstract excerpt
Lan is a high-incidence blood group antigen expressed in more than 99.9% of the population. Identification of the human ABC transporter ABCB6 as the molecular basis of Lan has opened the way for studies assessing the relation of ABCB6 function and expression to health and disease. To date, 34 ABCB6 sequence variants have been described in association with reduced ABCB6 expression based on the genotyping of stored...
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