Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site inKRT9
Author:
Affiliation:
1. Department of Dermatology; Tel Aviv Sourasky Medical Center; Tel Aviv; Israel
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12059/fullpdf
Reference10 articles.
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2. ConSurf 2010. calculating evolutionary conservation in sequence and structure of proteins and nucleic acids;Ashkenazy;Nucleic Acids Res,2010
3. Improved splice site detection in Genie;Reese;J Comput Biol,1997
4. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex;Han;Br J Dermatol,2006
5. A large mutational study in pachyonychia congenita;Wilson;J Invest Dermatol,2011
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1. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases;International Journal of Molecular Sciences;2022-08-24
2. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25
3. Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma;Frontiers in Genetics;2019-01-07
4. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma;Gene;2014-08
5. Hautveränderungen an Händen und Füßen;Der Hautarzt;2014-06
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