Genetic Diseases of Junctions
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference123 articles.
1. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular cardiomyopathy, skin disorder and woolly hair;Alcalai;J Am Coll Cardiol,2003
2. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome;Alexandrino;Am J Med Genet A,2005
3. Desmoplakin II expression is not restricted to stratified epithelia;Angst;J Cell Sci,1990
4. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype–phenotype relations, diagnostic features and prognosis;Antoniades;Eur Heart J,2006
5. A Novel N14Y mutation in Connexin26 in keratitis –ichthyosis–deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26;Arita;Am J Pathol,2006
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