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Disease: Epidermolysis bullosa simplex- Ogna type

  • Genetic linkage analysis of epidermolysis bullosa simplex, Kobner type
  • Genetics of the GPT system. Family, mother/child and association studies
  • Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites
  • Muscle-Related Plectinopathies
  • Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes
  • Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
  • The many faces of plectin and plectinopathies: pathology and mechanisms
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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