Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

10.1371/journal.pone.0087250

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Bibliographic Details
Main Authors:	Liu H., Li Y., Hung K.K.H., Wang N., Wang C., Chen X., Sheng D., Fu X., See K., Foo J.N., Low H., Liany H., Irwan I.D., Liu J., Yang B., Chen M., Yu Y., Yu G., Niu G., You J., Zhou Y., Ma S., Wang T., Yan X., Goh B.K., Common J.E.A., Lane B.E., Sun Y., Zhou G., Lu X., Wang Z., Tian H., Cao Y., Chen S., Liu Q., Zhang F.
Other Authors:	PATHOLOGY
Format:	Article
Published:	2019
Subjects:	ABCB6 gene animal experiment article Chinese clinical article coloboma controlled study dyschromatosis universalis hereditaria embryo exome gene gene expression regulation gene function gene mutation gene sequence genetic analysis genetic association genetic disorder genetic linkage genome analysis human human cell immunohistochemistry melanocyte mutational analysis nonhuman nucleotide sequence phenotype real time polymerase chain reaction sequence analysis single nucleotide polymorphism skin pigmentation visual system examination zebra fish amino acid sequence animal chromosome map embryology family health female genetic predisposition genetics male metabolism missense mutation molecular genetics pathology pedigree Pigmentation Disorders procedures reverse transcription polymerase chain reaction sequence homology skin skin disease ABC transporter ABCB6 protein, human Amino Acid Sequence Animals ATP-Binding Cassette Transporters Base Sequence Chromosome Mapping DNA Mutational Analysis Exome Family Health Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Immunohistochemistry Lod Score Male Melanocytes Molecular Sequence Data Mutation, Missense Pedigree Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Skin Skin Diseases, Genetic Zebrafish
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161431
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Institution:	National University of Singapore

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Summary:	10.1371/journal.pone.0087250