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
The role of ATP-binding Cassette subfamily B member 6 in the inner ear.
Baril SA et al.
Nature Communications, 2024
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
Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation.
Zhong W et al.
Clinical and Experimental Dermatology, 2019
ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation.
Bergam P et al.
Journal of Molecular Biology, 2018
ABCB6, an ABC Transporter Impacting Drug Response and Disease.
Boswell-Casteel RC et al.
The Aaps Journal, 2017
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
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
Mutations in ABCB6 cause dyschromatosis universalis hereditaria.
Zhang C et al.
The Journal of Investigative Dermatology, 2013
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui YX et al.
Plos One, 2013
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