The molecular basis of dystrophic epidermolysis bullosa in Mexico
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-4362.2000.00975.x/fullpdf
Reference33 articles.
1. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
2. A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa
3. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
4. Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa
5. Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein
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1. 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
2. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa;Molecular Therapy - Nucleic Acids;2019-12
3. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases;Methods in Molecular Biology;2018
4. COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa;Blistering Diseases;2015
5. Real-time PCR Detection of the Recessive Dystrophic Epidermolysis Bullosa-associated c.2470insG Mutation in Unrelated Mexican Families;Archives of Medical Research;2014-10
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