Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex-Reference-Cited by-同舟云学术

Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Published:1997-02 Issue:2 Volume:108 Page:220-223
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Smith Frances J.D.,Corden Laura D.,Rugg Elizabeth L.,Ratnavel Ravi,Leigh Irene M.,Moss Celia,Tidman Michael J.,Hohl Daniel,Huber Marcel,Kunkeler Lia,Munro Colin S.,Birgitte Lane E.,Irwin McLean W.H.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference17 articles.

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2. CpNpG methylation in mammalian cells;Clark;Nat Genet,1995

3. Human Gene Mutation;Cooper,1993

4. Eruptive vellus hair cysts;Esterly;Arch Dermatol,1977

5. Intermediate filaments: structure, dynamics, function and disease;Fuchs;Annu Rev Biochem,1994

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