Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference31 articles.
1. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture;Andra;Genes Dev,1997
2. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin;Charlesworth;J Invest Dermatol,2003
3. Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms;Elliott;Genomics,1997
4. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa;Fine;J Am Acad Dermatol,2000
5. Unusual 5′ transcript complexity of plectin isoforms: Novel tissue-specific exons modulate actin binding activity;Fuchs;Hum Mol Genet,1999
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