Homozygous Splice Site Mutations in PKP1 Result in Loss of Epidermal Plakophilin 1 Expression and Underlie Ectodermal Dysplasia/Skin Fragility Syndrome in Two Consanguineous Families-Reference-Cited by-同舟云学术

Homozygous Splice Site Mutations in PKP1 Result in Loss of Epidermal Plakophilin 1 Expression and Underlie Ectodermal Dysplasia/Skin Fragility Syndrome in Two Consanguineous Families

Published:2004-03 Issue:3 Volume:122 Page:647-651
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Sprecher Eli,Molho-Pessach Vered,Ingber Arieh,Sagi Efraim,Indelman Margarita,Bergman Reuven

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference20 articles.

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5. Genotype–phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1;Hamada;Exp Dermatol,2002

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