Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

Nature Genetics

Volumn 44, Issue 10, 2012, Pages 1156-1160

  Zhang, Sheng Quan ^a,b   Jiang, Tao ^c   Li, Min ^a,b   Zhang, Xin ^a,b   Ren, Yun Qing ^a,b   Wei, Sheng Cai ^a,b   Sun, Liang Dan ^a,b   Cheng, Hui ^a,b   Li, Yang ^a,b   Yin, Xian Yong ^a,b   Hu, Zheng Mao ^d   Wang, Zhen Ying ^e   Liu, Yuan ^a,b   Guo, Bi Rong ^a,b   Tang, Hua Yang ^a,b   Tang, Xian Fa ^a,b   Ding, Yan Tao ^a,b   Wang, Jian Bo ^a,b   Li, Ping ^a,b   Wu, Bao Yu ^a,b   Wang, Wen ^a,b   Yuan, Xiang Feng ^a,b   Hou, Jun Sheng ^a,b   Ha, Wei Wei ^a,b   Wang, Wen Ju ^a,b   Zhai, Yu Juan ^a,b   Wang, Jing ^a,b   Qian, Fang Fang ^a,b   Zhou, Fu Sheng ^b   Chen, Gang ^b   Zuo, Xian Bo ^b   Zheng, Xiao Dong ^b   Sheng, Yu Jun ^a,b   Gao, Jin Ping ^a,b   Liang, Bo ^a,b   Li, Pan ^a,b   Zhu, Jun ^a,b   Xiao, Feng Li ^a,b   Wang, Pei Guang ^a,b   Cui, Yong ^a,b   Li, Hui ^a,b   Liu, Sheng Xiu ^a,b   Gao, Min ^a,b   Fan, Xing ^a,b   Shen, Song Ke ^a,b   Zeng, Ming ^a,b   Sun, Guang Qing ^c   Xu, Yu ^c   Hu, Jing Chu ^c   He, Ting Ting ^c   Li, Ying Rui ^c   Yang, Huan Ming ^c   Weng, Jian ^c   Yu, Zhong Yi ^a,b   Zhang, Hui Feng ^a,b   Hu, Xin ^a,b   Yang, Ke ^a,b   Wang, Jie ^a,b   Zhao, Shi Xiang ^a,b   Zhou, You Wen ^a,b   Liu, Jian Jun ^a,b   Du, Wei Dong ^a,b   Zhang, Li ^e   Xia, Kun ^d   Yang, Sen ^a,b   Wang, Jun ^c   Zhang, Xue Jun ^a,b   more..

^a ANHUI MEDICAL UNIVERSITY   (China)

^b State Key Laboratory Incubation Base of Dermatology   (China)

^c BGI SHENZHEN   (China)

^d CENTRAL SOUTH UNIVERSITY   (China)

^e SHANDONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; MEVALONATE KINASE;

ACTINIC POROKERATOSIS; APOPTOSIS; ARTICLE; CELL DIFFERENTIATION; CONTROLLED STUDY; DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS; EXOME; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; INITIATION CODON MUTATION; KERATINOCYTE; MAJOR CLINICAL STUDY; MEVALONATE KINASE GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SPLICING DEFECT; START CODON; ULTRAVIOLET A RADIATION;

APOPTOSIS; CASE-CONTROL STUDIES; CELL DIFFERENTIATION; CELL PROLIFERATION; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KERATINOCYTES; MALE; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; POROKERATOSIS; RNA SPLICE SITES;

EID: 84866933028     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2409     Document Type: Article

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