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Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

✍ Scribed by M.J. Arin; G. Grimberg; H. Schumann; H. De Almeida Jr; Y.-R. Chang; G. Tadini; J. Kohlhase; T. Krieg; L. Bruckner-Tuderman; C. Has

Book ID
108671085
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
161 KB
Volume
162
Category
Article
ISSN
0007-0963

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Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly
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Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant genetic skin disorders caused by mutations of the keratin genes KRT5 and KRT14. It is characterised by lysis of basal keratinocytes leading to the development of intraepidermal blisters upon minor mechanical trauma. We investigated

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Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
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Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations are clustered in several hotspots, namely the rod ends of the 1A and 2B domains and in the non-helical linker region L12.