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Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

by Pulaski, Lukasz , Studzian, Maciej , Antalffy, Geza , Andrikovics, Hajnalka , Gera, Melinda , Hungarian National Blood Transfusion Service , Strapagiel, Dominik , Tordai, Attila , Kiss, Katalin , Koszarska, Magdalena , Szakacs, Gergely , Hungarian Academy of Sciences, Institute of Enzymology , Sarkadi, Balazs , Varady, Gyorgy , Japanese Red Cross Kinki Block Blood Center , Kucsma, Nora , szakacs.gergely@ttk.mta.hu , Semmelweis University , Tani, Yoshihiko , University of Lodz, Department of Molecular Biophysics

in ABC transporter / Adult / Aged / Alleles / Antibodies / Antigens / ATP-Binding Cassette Transporters - genetics / Autophagy / Base Sequence / Biology and Life Sciences / Biophysics / Blood / Blood & organ donations / Blood groups / Blood transfusions / Cell Membrane - metabolism / Cell surface / Confocal microscopy / Cytometry / Disease / Erythrocytes / Erythrocytes - metabolism / Female / Flow Cytometry / Gene frequency / Gene sequencing / Genetic aspects / Genetic disorders / Genetic diversity / Genetic variance / Genomes / Genotyping / Health / Heterozygote / Humans / Isoantigens - genetics / Localization / Male / Medical screening / Medicine and Health Sciences / Microscopy / Middle Aged / Mutation / Mutation - genetics / Mutation Rate / Pedigree / Physiology / Polymorphism, Single Nucleotide - genetics / Proteins / Proteomics / Single nucleotide polymorphisms / Single-nucleotide polymorphism / Subcellular Fractions

2014

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Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

2014

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Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

2014

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Journal Article

Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

Pulaski, Lukasz,

Studzian, Maciej,

Antalffy, Geza,

Andrikovics, Hajnalka,

Gera, Melinda,

Hungarian National Blood Transfusion Service,

Strapagiel, Dominik,

Tordai, Attila,

Kiss, Katalin,

Koszarska, Magdalena,

Szakacs, Gergely,

Hungarian Academy of Sciences, Institute of Enzymology,

Sarkadi, Balazs,

Varady, Gyorgy,

Japanese Red Cross Kinki Block Blood Center,

Kucsma, Nora,

szakacs.gergely@ttk.mta.hu,

Semmelweis University,

Tani, Yoshihiko,

University of Lodz, Department of Molecular Biophysics

2014

Overview

This work was supported by the Lendulet Program of the Hungarian Academy of Sciences (GS), OTKA 83533 and by the Polish POIG grant 01.01.02-10-005/08 TESTOPLEK, supported by the EU through the European Regional Development Fund. Hajnalka Andrikovics is a recipient of the Janos Bolyai Research Scholarship from the Hungarian Academy of Sciences. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. We thank Dr. Camilo Toro and Dr. William Gahl of the NIH Undiagnosed Diseases Program for an affected patient specimen; that work was supported by the Intramural Research Program of the National Human Genome Research Institute and the Office of the Director of the NIH. We thank Lionel Arnaud (National Institute of Blood Transfusion (INTS), Paris, France) for helpful discussions.

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Publisher

PLOS,Public Library of Science,Public Library of Science (PLoS)

Subject

ABC transporter

/ Adult

/ Aged

/ Alleles

/ Antibodies

/ Antigens

/ ATP-Binding Cassette Transporters - genetics