A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa (DEB) is a genetic mechanobullous skin disorder that manifests at birth or in early infancy. The hallmarks of DEB are blister formation, skin fragility, and nail dystrophy following minor trauma. The disorder results from mutations in the type VII collagen gene (COL7...
Main Authors: | Ping Cheng, Yingda Wu, Wanlu Zhang, Yuanyuan Zhang, Weixue Jia, Chengrang Li |
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Format: | Article |
Language: | English |
Published: |
Termedia Publishing House
2022-07-01
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Series: | Advances in Dermatology and Allergology |
Online Access: | https://www.termedia.pl/A-de-novo-missense-mutation-in-the-NC1-domain-r-nof-type-VII-collagen-leads-to-dystrophic-epidermolysis-r-nbullosa,7,47324,1,1.html |
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