A Novel Mutation in the 1A Domain of Keratin 2e in Ichthyosis Bullosa of Siemens-Reference-Cited by-同舟云学术

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A Novel Mutation in the 1A Domain of Keratin 2e in Ichthyosis Bullosa of Siemens

Published:1999-03 Issue:3 Volume:112 Page:380-382
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Arin Meral J.,Longley Mary A.,Epstein Ervin H.,Scott Glynis,Goldsmith Lowell A.,Rothnagel Joseph A.,Roop Dennis R.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference16 articles.

1. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12q;Bonifas;J Invest Dermatol,1992

2. Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation;Collin;Exp Cell Res,1992

3. Human keratin diseases. Hereditary fragility of specific epithelial tissues;Corden;Exp Dermatol,1996

4. Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence of the C-terminal end of the rod domain;Hatzfeld;J Cell Sci,1991

5. A new keratin 2e mutation in ichthyosis bullosa of Siemens;Jones;J Invest Dermatol,1997

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