Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2;Covello;Br J Dermatol,1998
2. Clinical and pathological features of pachyonychia congenita;Leachman;J Investig Dermatol Symp Proc,2005
3. Pachyonychia congenita: mutations and clinical presentations;Munro;Br J Dermatol,2001
4. Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces;Serrano;J Mol Biol,1992
5. Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families;Shamsher;Hum Mol Genet,1995
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1. A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology;The Journal of Dermatology;2024-07-04
2. Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration;The Keio Journal of Medicine;2023
3. Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation;Cutis;2022-07
4. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita;Journal of Investigative Dermatology;2021-12
5. Identification of clinically useful predictive genetic variants in pachyonychia congenita;Clinical and Experimental Dermatology;2021-03-17
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