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
Revertant Mosaicism in Epidermolysis Bullosa.
Meyer-Mueller C et al.
Biomedicines, 2022
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.
Sproule TJ et al.
Plos Genetics, 2014
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
Pasmooij AM et al.
The Journal of Investigative Dermatology, 2010
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
Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa.
Fu CL et al.
The Journal of Investigative Dermatology, 2006
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW et al.
Clinical and Experimental Dermatology, 2003
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
Darling TN et al.
The Journal of Clinical Investigation, 1999
Select a paper to view details