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 genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
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
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
Pasmooij AM et al.
American Journal of Human Genetics, 2005
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