Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Nature Genetics

Volumn 39, Issue 5, 2007, Pages 650-654

  Sandilands, Aileen ^a   Terron Kwiatkowski, Ana ^a   Hull, Peter R ^a   O'Regan, Gráinne M ^b   Clayton, Timothy H ^b   Watson, Rosemarie M ^b   Carrick, Thomas ^c   Evans, Alan T ^c   Liao, Haihui ^a   Zhao, Yiwei ^a   Campbell, Linda E ^a   Schmuth, Matthias ^d   Gruber, Robert ^d   Janecke, Andreas R ^d   Elias, Peter M ^e   Van Steensel, Maurice A M ^f   Nagtzaam, Ivo ^f   Van Geel, Michel ^f   Steijlen, Peter M ^f   Munro, Colin S ^g   Bradley, Daniel G ^h   Palmer, Colin N A ^a   Smith, Frances J D ^a   McLean, W H Irwin ^a   Irvine, Alan D ^b,h   more..

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c NHS TAYSIDE   (United Kingdom)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^g SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^h TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ALLELE; ARTICLE; ATOPIC DERMATITIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE SEVERITY; EPIDERMIS; FILAGGRIN GENE; FISHER EXACT TEST; FRAMESHIFT MUTATION; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; ICHTHYOSIS VULGARIS; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; CODON, NONSENSE; DERMATITIS, ATOPIC; EPIDERMIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; IRELAND; MOLECULAR SEQUENCE DATA; SEQUENCE ANALYSIS, DNA;

EID: 34247578168     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2020     Document Type: Article

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