Genetic Linkage Between the Collagen Type VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference17 articles.
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2. Pretibial epidermolysis bullosa;Lee;J Am Acad Dermatol,1993
3. Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?;Bouwes Bavinck;Clin Genet,1987
4. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds;Gruis;J Invest Dermatol,1992
5. Inherited epidermolysis bullosa: clinical features, molecular genetics, and pathoetiologic mechanisms;Uitto;Dermatol Clin,1993
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1. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa;Molecular Genetics & Genomic Medicine;2022-02-28
2. DYSTROPHIC EPIDERMOLYSIS BULLOSA - CASE SERIES OF CRYSTAL SKIN CHILDREN;PARIPEX INDIAN JOURNAL OF RESEARCH;2020-09-15
3. Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen;JAAD Case Reports;2019-09
4. Epidermolysis bullosa pruriginosa a clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family;Journal of Dermatology & Dermatologic Surgery;2017-07
5. Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype;Journal of the European Academy of Dermatology and Venereology;2015-10-07
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