A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling-Degos disease

Journal of the European Academy of Dermatology and Venereology

Volumn 26, Issue 7, 2012, Pages 908-910

  Guo, L ^a   Luo, X ^b   Zhao, A ^a   Huang, H ^b   Wei, Z ^a   Chen, L ^b   Qin, S ^c   Shao, L ^c   Xuan, J ^c   Feng, G ^c   Minghua, C ^b   Luan, J ^b   He, L ^a,c   Xing, Q ^a  

^a FUDAN UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 5; GENOMIC DNA; MELANIN;

ADULT; ARTICLE; BLISTER; CASE REPORT; CHINESE; CONTROLLED STUDY; DNA ISOLATION; DOWLING DEGOS DISEASE; EXON; GENE AMPLIFICATION; GENE SEQUENCE; GENODERMATOSIS; HETEROZYGOTE; HIGH TEMPERATURE; HUMAN; HYPERKERATOSIS; HYPERPIGMENTATION; HYPOPIGMENTATION; INTRON; MALE; MOLECULAR GENETICS; NONSENSE MUTATION; PRIORITY JOURNAL; PRURITUS; RASH; SKIN BIOPSY; SUN EXPOSURE; TELANGIECTASIA;

ABNORMALITIES, MULTIPLE; CHINA; CODON, NONSENSE; EXONS; HETEROZYGOTE; HUMANS; INTRONS; KERATIN-5; SYNDROME;

EID: 84862760688     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2011.04115.x     Document Type: Article

References (11)

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