Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
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Biology of Heme in Mammalian Erythroid Cells and Related DisordersScreening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individualsRole of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein.Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos diseaseDifferential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF).Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis--A Case of Mistaken Identity and Review of the Literature.Updated review of genetic reticulate pigmentary disorders.Dyschromatosis universalis hereditaria with renal failureA Case of Sporadic Dyschromatosis Universalis Hereditaria.ABCB6, an ABC Transporter Impacting Drug Response and Disease.Hereditary stomatocytosis: An underdiagnosed condition.
P2860
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P2860
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 February 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
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Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
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type
label
Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
@en
Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
@nl
prefLabel
Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
@en
Genome-wide linkage, exome seq ...... tosis universalis hereditaria.
@nl
P2093
P2860
P50
P1433
P1476
Genome-wide linkage, exome seq ...... atosis universalis hereditaria
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P2093
Baoqi Yang
Birgitte E Lane
Boon Kee Goh
Chuan Wang
Donglai Sheng
Furen Zhang
Guizhi Zhou
Herty Liany
P2860
P304
P356
10.1371/JOURNAL.PONE.0087250
P407
P577
2014-02-03T00:00:00Z