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
[Clinical and genetic analysis of an individual with Lan-negative rare blood group due to variant of ABCB6 gene].
Xu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria.
Zhou D et al.
Experimental Dermatology, 2023
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.
Cao L et al.
Bmc Medical Genomics, 2021
Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis.
Wu N et al.
Frontiers in Genetics, 2020
Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum.
Egan ES et al.
Communications Biology, 2018
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.
Liu JW et al.
Chinese Medical Journal, 2016
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
Lu C et al.
Journal of Dermatological Science, 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
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
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui YX et al.
Plos One, 2013
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