Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2007.02384.x/fullpdf
Reference10 articles.
1. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK);Reis;Nat Genet,1994
2. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with ‘tonotubular’ keratin;Terron-Kwiatkowski;J Invest Dermatol,2006
3. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads;Lu;Am J Med Genet,2003
4. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma;Rothnagel;J Invest Dermatol,1995
5. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma;Lin;Clin Exp Dermatol,2004
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1. Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders;Journal of Proteomics;2023-09
2. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review;Molecular Genetics & Genomic Medicine;2019-09-16
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. Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma;Cellular Physiology and Biochemistry;2018
5. Hereditary Disorders of Cornification;Hurwitz Clinical Pediatric Dermatology;2016
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