- Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene
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Cho JW, Ryu HW, Kim SA, Nakano H, Lee KS
- KMID: 2264870
- Ann Dermatol.
- 2014 Dec;26(6):739-742.
- doi: 10.5021/ad.2014.26.6.739
Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin... -
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- Type VII Collagen Gene Mutations (c.8569G>T and c.4879G>A) Result in the Moderately Severe Phenotype of Recessive Dystrophic Epidermolysis Bullosa in a Korean Patient
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Cho JW, Nakano H, Lee KS
- KMID: 1779127
- J Korean Med Sci.
- 2009 Apr;24(2):256-261.
- doi: 10.3346/jkms.2009.24.2.256
Dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene, which encodes type VII collagen. Even though more than 500 different COL7A1 mutations have been identified in DEB,... -
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