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Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

✍ Scribed by Pfendner, Ellen G. ;Sadowski, Sara G. ;Uitto, Jouni


Book ID
110733565
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
66 KB
Volume
125
Category
Article
ISSN
0022-202X

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Novel and recurrent mutations in keratin
✍ Felix B. MΓΌller; Wolfgang KΓΌster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 179 KB πŸ‘ 1 views

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