New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

The intermediate filaments of epithelial cells are formed by keratins, a family of structurally related proteins, which are expressed in pairs of acidic (type I) and basic (type II) polypeptides in a tissue‐ and differentiation‐specific manner. Mutations in the genes encoding several keratins have b...

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Veröffentlicht in:	British journal of dermatology (1951) 2001-08, Vol.145 (2), p.330-335
Hauptverfasser:	Whittock, N.V., Ashton, G.H.S., Griffiths, W.A.D., Eady, R.A.J., McGRATH, J.A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autosomal dominant Biological and medical sciences bullous congenital ichthyosiform erythroderma Bullous diseases of the skin Dermatology Female Genes, Dominant genodermatosis Humans Hyperkeratosis, Epidermolytic - genetics ichthyosis bullosa of Siemens keratin intermediate filament network keratinocyte Keratins - genetics Medical sciences Mutation, Missense - genetics
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