Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome

Clin Genet. 2022 Sep;102(3):248-250. doi: 10.1111/cge.14179. Epub 2022 Jun 27.

Abstract

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • 5' Untranslated Regions / genetics
  • Alagille Syndrome* / genetics
  • Calcium-Binding Proteins / genetics
  • Humans
  • Jagged-1 Protein / genetics

Substances

  • 5' Untranslated Regions
  • Calcium-Binding Proteins
  • JAG1 protein, human
  • Jagged-1 Protein