Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

Acta Derm Venereol. 2020 Aug 18;100(15):adv00242. doi: 10.2340/00015555-3600.

Abstract

is missing (Short communication).

Keywords: plectin; whole exome sequencing; epidermolysis bullosa.

MeSH terms

  • Epidermolysis Bullosa Simplex* / genetics
  • Humans
  • Mutation
  • Mutation, Missense
  • Plectin / genetics

Substances

  • Plectin