Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme

J Invest Dermatol. 2016 Nov;136(11):2314-2317. doi: 10.1016/j.jid.2016.05.128. Epub 2016 Jul 6.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Carbon-Carbon Ligases / genetics*
  • Exons*
  • Humans
  • Mutation*
  • RNA Splicing*

Substances

  • Carbon-Carbon Ligases
  • glutamyl carboxylase