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Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.

AuthorsMathilde C S C Vermeer, Herman H W Silljé, Hendri H Pas, Daniela Andrei, Peter van der Meer, Maria C Bolling
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 142 Issue 8 Pg. 2271-2274.e6 (08 2022) ISSN: 1523-1747 [Electronic] United States
PMID35031308 (Publication Type: Journal Article)
Chemical References
  • KLHL24 protein, human
  • Keratin-14
  • Keratin-5
  • Repressor Proteins
  • Keratins
Topics
  • Aging
  • Epidermolysis Bullosa Simplex (genetics)
  • Gain of Function Mutation
  • Humans
  • Keratin-14 (genetics, metabolism)
  • Keratin-5 (genetics)
  • Keratins (genetics)
  • Mutation
  • Repressor Proteins (genetics)

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