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Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14

โœ Scribed by E. Yiasemides; N. Trisnowati; J. Su; N. Dang; S. Klingberg; P. Marr; W. Melbourne; K. Tran; C. W. Chow; D. Orchard; G. Varigos; D. F. Murrell


Book ID
108694788
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
409 KB
Volume
33
Category
Article
ISSN
0307-6938

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Novel and recurrent mutations in keratin
โœ Felix B. Mรผller; Wolfgang Kรผster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 179 KB ๐Ÿ‘ 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