Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2
Author:
Affiliation:
1. Faculty of Medicine; McGill University; Montreal Quebec Canada
2. Division of Dermatology; McGill University Health Center; Montréal Quebec Canada
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.14082/fullpdf
Reference19 articles.
1. Keratin 16 and keratin 17 mutations cause pachyonychia congenita;McLean;Nat Genet,1995
2. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2;Smith;Hum Mol Genet,1998
3. The molecular genetic analysis of the expanding pachyonychia congenita case collection;Wilson;Br J Dermatol,2014
4. A large mutational study in pachyonychia congenita;Wilson;J Invest Dermatol,2011
5. Novel keratin 17 mutations in pachyonychia congenita type 2;Smith;J Invest Dermatol,2001
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1. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies;European Journal of Human Genetics;2022-06-09
2. A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita;International Journal of General Medicine;2021-03
3. Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes;Skin Appendage Disorders;2021
4. Silencing of keratin 17 by lentivirus‑mediated short hairpin RNA inhibits the proliferation of PANC‑1 human pancreatic cancer cells;Oncology Letters;2020-03-20
5. Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis;Journal of the European Academy of Dermatology and Venereology;2019-09-19
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