A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference15 articles.
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3. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum. Mutat.,1997
4. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp. Dermatol.,2008
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Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature;BMC Pediatrics;2024-04-05
2. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
3. A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature;Journal of Cosmetic Dermatology;2019-11-10
4. 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
5. Splicing mutation in theCOL7A1gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa;The Journal of Dermatology;2014-10-25
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