Genetic lessons learned from pathogenic variants in KRT1
Author:
Affiliation:
1. Institute of Human Genetics University of Bonn, School of Medicine & University Hospital Bonn Bonn Germany
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18510
Reference8 articles.
1. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
2. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads
3. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review
4. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
5. A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar Keratoderma
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