Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5-Reference-Cited by-同舟云学术

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Published:2003-04 Issue:4 Volume:120 Page:623-626
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Sprecher Eli,Yosipovitch Gil,Bergman Reuven,Ciubutaro Dan,Indelman Margarita,Pfendner Ellen,Goh Leok C.,Miller Christopher J.,Uitto Jouni,Richard Gabriele

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference19 articles.

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2. The genetic basis of various types of ichthyosis in a family group;Curth;Am J Hum Genet,1954

3. Clinical heterogeneity in epidermolytic hyperkeratosis;DiGiovanna;Arch Dermatol,1994

4. A structural scaffolding of intermediate filaments in health and disease;Fuchs;Science,1998

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

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