Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.2003.05315.x/fullpdf
Reference50 articles.
1. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa
2. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
3. Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity
4. Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique
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2. Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province;Gene, Cell and Tissue;2023-02-01
3. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum;European Journal of Medical Genetics;2021-12
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5. Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population;Clinical Genetics;2020-06-21
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