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

PLoS ONE

Volumn 9, Issue 2, 2014, Pages

  Liu, Hong ^a,b,c,d   Li, Yi ^e   Hung, Ken Kwok Hon ^e   Wang, Na ^a,c   Wang, Chuan ^a,c   Chen, Xuechao ^a,c   Sheng, Donglai ^e   Fu, Xi'an ^a,c   See, Kelvin ^e   Foo, Jia Nee ^e   Low, Huiqi ^e   Liany, Herty ^e   Irwan, Ishak Darryl ^e   Liu, Jian ^a,c   Yang, Baoqi ^b,d   Chen, Mingfei ^a,c   Yu, Yongxiang ^a,c   Yu, Gongqi ^a,c   Niu, Guiye ^a,c   You, Jiabao ^a,c   Zhou, Yan ^a,c   Ma, Shanshan ^a,c   Wang, Ting ^f   Yan, Xiaoxiao ^b,d   Goh, Boon Kee ^g   Common, John E A ^h   Lane, Birgitte E ^h   Sun, Yonghu ^a,c   Zhou, Guizhi ^a,c   Lu, Xianmei ^a,c   Wang, Zhenhua ⁱ   Tian, Hongqing ^b,d   Cao, Yuanhua ^j   Chen, Shumin ^a,c   Liu, Qiji ^b   Liu, Jianjun ^e,k   Zhang, Furen ^a,b,c,d,k   more..

^a Provincial Academy of Medical Science   (China)

^b SHANDONG UNIVERSITY   (China)

^c Shandong Provincial Key Lab for Dermatovenereology   (China)

^d Shandong Provincial Medical Center for Dermatovenereology   (China)

^e GENOME INSTITUTE OF SINGAPORE   (Singapore)

^f Shandong Eye Institute and Shandong Eye Hospital   (China)

^g NATIONAL SKIN CENTRE   (Singapore)

^h INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

ⁱ WEIFANG PEOPLE'S HOSPITAL   (China)

^j INSTITUTE OF DERMATOLOGY   (China)

^k ANHUI MEDICAL UNIVERSITY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

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; PIGMENTATION DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SKIN; SKIN DISEASES, GENETIC; ZEBRAFISH;

EID: 84895505118     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087250     Document Type: Article

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