Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa
Author:
Affiliation:
1. Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA
Publisher
Wiley
Subject
Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijd.16425
Reference6 articles.
1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
2. Late-onset pretibial recessive dystrophic epidermolysis bullosa
3. Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa
4. Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy
5. A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene
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