Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2-Reference-Cited by-同舟云学术

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Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2

Published:2001-05 Issue:5 Volume:116 Page:806-808
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Smith Frances J.D.,Coleman Carrie M.,Bayoumy Nagy M.,McLean W.H. Irwin,Tenconi Romano,Nelson John,David Albert

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference22 articles.

1. Mutation of a type II keratin gene (K6a) in pachyonychia congenita;Bowden;Nat Genet,1995

2. Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2;Celebi;J Invest Dermatol,1999

3. Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome;Clementi;Br J Dermatol,1986

4. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2;Covello;Br J Dermatol,1998

5. A structural scaffolding of intermediate filaments in health and disease;Fuchs;Science,1997

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies;European Journal of Human Genetics;2022-06-09

2. Oral Signs of Genetic Disease;Oral Signs of Systemic Disease;2019

3. Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2;International Journal of Dermatology;2018-06-15

4. A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2;International Journal of Dermatology;2012-12-26

5. Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view;European Journal of Pediatrics;2008-12-24

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