Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang, Tae-Won; Lee, Jeong Seon; Kim, Song-Ee; Oh, Se-Woong; Kim, Soo-Chan

Kang, Tae-Won; Lee, Jeong Seon; Kim, Song-Ee; Oh, Se-Woong; Kim, Soo-Chan.

Affiliation

Kang TW; Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul 135-720, Republic of Korea.

J Dermatol Sci ; 57(2): 90-4, 2010 Feb.

Article in En | MEDLINE | ID: mdl-20060687

Subject(s)

Asian People/genetics; Epidermolysis Bullosa Simplex/ethnology; Epidermolysis Bullosa Simplex/genetics; Keratin-14/genetics; Keratin-5/genetics; Mutation; Adolescent; Adult; Codon, Nonsense; Epidermolysis Bullosa Simplex/pathology; Female; Gene Deletion; Genotype; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation, Missense; Phenotype; Sequence Analysis; Severity of Illness Index; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Simplex / Asian People / Keratin-14 / Keratin-5 / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: J Dermatol Sci Journal subject: DERMATOLOGIA Year: 2010 Type: Article

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