Splicing mutation in theCOL7A1gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa
Author:
Affiliation:
1. Department of Dermatology; St Marianna University School of Medicine; Kawasaki Japan
2. Department of Dermatology; Hirosaki University Graduate School of Medicine; Hirosaki Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Reference5 articles.
1. Pretibial epidermolysis bullosa: a clinicopathologic study;Lee;J Am Acad Dermatol,1993
2. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort;Kern;Br J Dermatol,2009
3. Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa;Koga;J Dermatol,2011
4. A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity;Liu;Gene,2013
5. A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB prurigonosa;Saito;Clin Exp Dermatol,1999
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1. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
2. A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene;Annals of Dermatology;2022
3. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa;Molecular Therapy - Nucleic Acids;2019-12
4. A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature;Journal of Cosmetic Dermatology;2019-11-10
5. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial;The Journal of Dermatology;2018-03-03
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