Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

Wada, T; Matsuda, Y; Muraoka, M; Toma, T; Takehara, K; Fujimoto, M; Yachie, A

Wada, T; Matsuda, Y; Muraoka, M; Toma, T; Takehara, K; Fujimoto, M; Yachie, A.

Affiliation

Wada T; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

Clin Genet ; 86(4): 383-6, 2014 Oct.

Article in En | MEDLINE | ID: mdl-24116970

Subject(s)

Alu Elements/genetics; Dermatitis, Exfoliative/genetics; Glycoproteins/genetics; Skin Diseases, Genetic/genetics; Chromosome Deletion; Dermatitis, Exfoliative/pathology; Female; Gene Deletion; Gene Expression Regulation; Glycoproteins/biosynthesis; Homozygote; Humans; Infant, Newborn; Intercellular Signaling Peptides and Proteins; Recombination, Genetic; Skin Diseases, Genetic/pathology

Key words

Alu; CDSN; deletion; peeling skin disease; recombination

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Diseases, Genetic / Glycoproteins / Dermatitis, Exfoliative / Alu Elements Limits: Female / Humans / Newborn Language: En Journal: Clin Genet Year: 2014 Document type: Article

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