Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature Genetics

Volumn 38, Issue 3, 2006, Pages 337-342

  Smith, Frances J D ^a   Irvine, Alan D ^b   Terron Kwiatkowski, Ana ^a   Sandilands, Aileen ^a   Campbell, Linda E ^a   Zhao, Yiwei ^a   Liao, Haihui ^a   Evans, Alan T ^c   Goudie, David R ^c   Lewis Jones, Sue ^c   Arseculeratne, Gehan ^c   Munro, Colin S ^d   Sergeant, Ann ^d   O'Regan, Gráinne ^b   Bale, Sherri J ^e   Compton, John G ^e   Digiovanna, John J ^f,g   Presland, Richard B ^h   Fleckman, Philip ^h   McLean, W H Irwin ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c NHS TAYSIDE   (United Kingdom)

^d NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^e GENEDX   (United States)

^f RHODE ISLAND HOSPITAL   (United States)

^g NATIONAL CANCER INSTITUTE   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; KERATIN; KERATOHYALIN; PEPTIDE; PROFILAGGRIN; STRUCTURAL PROTEIN;

ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; CROSS LINKING; EPIDERMIS; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; ICHTHYOSIS VULGARIS; KERATINIZATION; KERATINOCYTE; MAJOR CLINICAL STUDY; MORBIDITY; MUTATIONAL ANALYSIS; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PROTEIN DEFECT;

CHILD; FEMALE; HETEROZYGOTE DETECTION; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; PEDIGREE; PHOSPHOPROTEINS; REFERENCE VALUES; SEQUENCE DELETION;

EID: 33644622891     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1743     Document Type: Article

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