Next-generation sequencing identified a novel mutation of COL7A1 in a Chinese pedigree of dystrophic epidermolysis bullosa
Author:
Affiliation:
1. Department of Dermatology; No. 1 Hospital of China Medical University; Shenyang China
2. Liaoning Centre for Prenatal Diagnosis; Department of Gynecology & Obstetrics; Shengjing Hospital of China Medical University; Shenyang China
Funder
Universities of Liaoning Province
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13612/fullpdf
Reference6 articles.
1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014
2. Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa;Danescu;J Eur Acad Dermatol Venereol,2015
3. A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing;Wei;Clin Chim Acta,2011
4. Diagnosing epidermolysis bullosa type and subtype in infancy using immunofluorescence microscopy: the Stanford experience;Berk;Pediatr Dermatol,2013
5. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory;Takeichi;Br J Dermatol,2015
Cited by 2 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. Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris;The Journal of Dermatology;2018-12-14
2. Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa;Medicine;2018-12
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