A novel DKC1 gene mutation c.1177 A>T (p.I393F) in a case of dyskeratosis congenita with severe telomere shortening

Int J Dermatol. 2019 Dec;58(12):1468-1471. doi: 10.1111/ijd.14424. Epub 2019 Mar 13.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism
  • DNA Mutational Analysis
  • Dyskeratosis Congenita / diagnosis
  • Dyskeratosis Congenita / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Male
  • Molecular Docking Simulation
  • Mutation
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Pedigree
  • Protein Binding / genetics
  • Telomere Shortening*
  • Young Adult

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • SHQ1 protein, human