Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis

Dermatology

Volumn 218, Issue 2, 2009, Pages 186-187

  Kang, Tae Won ^a   Lee, Jeong Seon ^a   Oh, Se Woong ^a   Kim, Soo Chan ^a,b  

^a Yonsei University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

Author keywords

Atopic dermatitis; Filaggrin mutation; Ichthyosis vulgaris

Indexed keywords

FILAGGRIN;

ADULT; ATOPIC DERMATITIS; CASE REPORT; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; ICHTHYOSIS VULGARIS; LETTER; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 1; CODON, NONSENSE; DERMATITIS, ATOPIC; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; MALE;

EID: 59049093974     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000163083     Document Type: Letter

References (4)

1. Smith FJD, Irvine AD, Terron-Kwiatkowski A, et al: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006;38:337-342.
2. Palmer CNA, Irvine AD, Terron-Kwiatkowski A, et al: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006;38:441-446.
3. Nomura T, Sandilands A, Akiyama M, et al: Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007;119:434-440.
4. Nomura T, Akiyama M, Sandilands A, et al: Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008;128:1436-1441.