Associated Papers
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
Fozia F et al.
Frontiers in Pediatrics, 2021
34414147 (PubMed )
Supplement: Table_1.docx
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
Pasmooij AM et al.
The British Journal of Dermatology, 2007
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
Nakamura H et al.
International Journal of Molecular Medicine, 2006
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW et al.
Clinical and Experimental Dermatology, 2003
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.
Wu Y et al.
Journal of Dermatological Science, 2002
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy.
Shimizu H et al.
Archives of Dermatological Research, 1999
Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy.
Harman KE et al.
The British Journal of Dermatology, 1999
Generalized atrophic benign epidermolysis bullosa: a case of severe hemidesmosomal deficiency.
Hashimoto K et al.
The Journal of Dermatology, 1999
Hereditary skin diseases of hemidesmosomes.
Jonkman MF
Journal of Dermatological Science, 1999
The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.
Shimizu H et al.
The Journal of Investigative Dermatology, 1998
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