Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP et al.
Blood Advances, 2022
Next-Generation Sequencing Technologies in Blood Group Typing.
Fürst D et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child
Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum.
Egan ES et al.
Communications Biology, 2018
30271928 (PubMed )
Supplement: 42003_2018_46_MOESM1_ESM.pdf
ABCB6, an ABC Transporter Impacting Drug Response and Disease.
Boswell-Casteel RC et al.
The Aaps Journal, 2017
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
27507172 (PubMed )
Supplement: ncomms12353-s1.pdf
International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).
Storry JR et al.
Vox Sanguinis, 2014
Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.
Haer-Wigman L et al.
Transfusion, 2014
Alleles of the LAN blood group system: molecular and serologic investigations.
Reid ME et al.
Transfusion, 2014
Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
Koszarska M et al.
Plos One, 2014
Disorders of red cell volume regulation.
Gallagher PG
Current Opinion in Hematology, 2013
The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan- blood type.
Saison C et al.
Vox Sanguinis, 2013
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