Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference50 articles.
1. Tissue form of type VII collagen from human skin and dermal fibroblasts in culture
2. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.
3. Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa
4. The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
5. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
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1. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
2. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation;American Journal of Medical Genetics Part A;2022-08-18
3. Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam;The Application of Clinical Genetics;2021-12
4. Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa;International Journal of Molecular Sciences;2021-11-26
5. Fludarabine modulates expression of type VII collagen during haematopoietic stem cell transplantation for recessive dystrophic epidermolysis bullosa*;British Journal of Dermatology;2021-03-08
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