Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype
Author:
Affiliation:
1. Department of Dermatology; St. Vincent's University Hospital; Dublin Ireland
2. Viapath; St. Thomas’ Hospital; London UK
3. St John's Institute of Dermatology; King's College London; London UK
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13385/fullpdf
Reference10 articles.
1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014
2. The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies;Chen;J Biol Chem,2001
3. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain;Bruckner-Tuderman;J Cell Biol,1995
4. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa;Christiano;Nat Genet,1993
5. Three Hong Kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease;Tang;Clin Exp Dermatol,1999
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2. A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene;Annals of Dermatology;2022
3. A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature;Journal of Cosmetic Dermatology;2019-11-10
4. Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa;Pediatric and Developmental Pathology;2018-03-04
5. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial;The Journal of Dermatology;2018-03-03
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