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
Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.
Hérissé AL et al.
The British Journal of Dermatology, 2021
Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.
Charlesworth A et al.
The British Journal of Dermatology, 2020
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
Prasad MK et al.
Journal of Dental Research, 2016
Amelioration of junctional epidermolysis bullosa due to exon skipping.
Kowalewski C et al.
The British Journal of Dermatology, 2016
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
Väisänen L et al.
The Journal of Investigative Dermatology, 2005
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