Intermediate Filament - Diseases Arising From Mutations in IF Genes

Diseases Arising From Mutations in IF Genes

  • Epidermolysis bullosa simplex; K5 or K14 mutation
  • Laminopathies are a family of diseases caused by mutations in nuclear lamins and include Hutchinson Gilford Progeria Syndrome and various lipodystrophies and cardiomyopathies among others.
  • Human Intermediate Filament Database(HIFD), a comprehensive database of human intermediate filament proteins, their associated variations and diseases.

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