Associated Papers
The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Wang H et al.
Frontiers in Genetics, 2024
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L et al.
Clinical and Experimental Dermatology, 2021
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ011
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b.
Guo K et al.
The Journal of Dermatology, 2014
A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.
Zhou HL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
Xiao SX et al.
The Journal of Investigative Dermatology, 2004
Nail that mutation-keratin 17 defect in late-onset pachyonychia.
Smith FJ
The Journal of Investigative Dermatology, 2004
[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].
Feng YG et al.
Zhonghua Yi Xue Za Zhi, 2003
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