A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema-Reference-Cited by-同舟云学术

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Published:2003-09 Issue:3 Volume:121 Page:482-485
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Gu Li-Hong,Ichiki Yoshiro,Nagai Miki,Kitajima Yasuo,Kim Soo-Chan,Park Junsu

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference18 articles.

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2. A novel nonsense mutation at E 106 of the 2B rod domain of keratin 14 cases dominant epidermolysis bullosa simplex;Gu;J Dermatol,2002

3. The clinical spectrum of epidermolysis bullosa simplex;Horn;Br J Dermatol,2000

4. Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation;Irvine;Br J Dermatol,1999

5. Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma;Ishida-Yamamoto;J Invest Dermatol,2000

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