A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2004.01495.x/fullpdf
Reference20 articles.
1. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.
2. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features
3. A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa
4. Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa
5. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.
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2. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China;Journal of the European Academy of Dermatology and Venereology;2022-11-05
3. The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa;Clinical Genetics;2021-09-15
4. EPIDERMOLYSIS BULLOSA PRURIGINOSA, A CASE REPORT AND REVIEW OF THE LITERATURE;Journal of IMAB - Annual Proceeding (Scientific Papers);2020-07-22
5. Epidermolysis Bullosa Pruriginosa: A Systematic Review Exploring Genotype–Phenotype Correlation;American Journal of Clinical Dermatology;2015-02-18
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