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Classification of classical epidermolysis bullosa

Classification of classical epidermolysis bullosa
Level of skin cleavage Epidermolysis bullosa type Inheritance Mutated gene(s) Targeted protein(s)
Intraepidermal Epidermolysis bullosa simplex Autosomal dominant KRT5, KRT14 Keratin 5, keratin 14
PLEC Plectin
KLHL24 Kelch-like member 24
Autosomal recessive KRT5, KRT14 Keratin 5, keratin 14
DST Bullous pemphigoid antigen 230 (BP230) (syn. BPAG1e, dystonin)
EXPH5 (syn. SLAC2B) Exophilin-5 (syn. synaptotagmin-like protein homolog lacking C2 domains b, Slac2-b)
PLEC Plectin
CD151 (syn. TSPAN24) CD151 antigen (syn. tetraspanin 24)
Junctional Junctional epidermolysis bullosa Autosomal recessive LAMA3, LAMB3, LAMC2 Laminin 332
COL17A1 Type XVII collagen
ITGA6, ITGB4 Integrin alpha-6 beta-4
ITGA3 Integrin alpha-3 subunit
Dermal Dystrophic epidermolysis bullosa Autosomal dominant COL7A1 Type VII collagen
Autosomal recessive COL7A1 Type VII collagen
Mixed Kindler epidermolysis bullosa Autosomal recessive FERMT1 (syn. KIND1) Fermitin family homolog 1 (syn. kindlin-1)
From: Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020. https://onlinelibrary.wiley.com/doi/full/10.1111/bjd.18921. Copyright © 2020 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (https://onlinelibrary.wiley.com/).
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