A novel missense mutation in theCOL7A1gene causes epidermolysis bullosa pruriginosa
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2009.03271.x/fullpdf
Reference10 articles.
1. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1);Jarvikallio;Hum Mutat,1997
2. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene;Christiano;Genomics,1994
3. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features;McGrath;Br J Dermatol,1994
4. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselling;Kon;J Invest Dermatol,1997
5. A glycineto-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa;Lee;J Invest Dermatol,1997
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1. Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait;International Journal of Dermatology;2018-07-16
2. Transient bullous dermolysis of the newborn: a novelde novomutation in theCOL7A1gene;International Journal of Dermatology;2015-03-20
3. Epidermolysis Bullosa Pruriginosa: A Systematic Review Exploring Genotype–Phenotype Correlation;American Journal of Clinical Dermatology;2015-02-18
4. Bullous pemphigoid clinically presenting as lichen amyloidosis;Indian Journal of Dermatology, Venereology, and Leprology;2014
5. A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity;Gene;2013-07
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