Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
Author:
Publisher
Wiley
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
2. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa
3. Type VII collagen is a major structural component of anchoring fibrils.
4. Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa
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1. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
2. Genes and compounds that increase type VII collagen expression as potential treatments for dystrophic epidermolysis bullosa;Experimental Dermatology;2022-03-09
3. Transient bullous dermolysis of the newborn: a novelde novomutation in theCOL7A1gene;International Journal of Dermatology;2015-03-20
4. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in theCOL7Agene;Pediatrics International;2013-04
5. Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa;PLoS ONE;2012-11-30
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