Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene

J. Haberle, M.B. Moore, N. Haskins, V. Rufenacht, D. Rokicki, E. Rubio-Gozalbo, M. Tuchman, N. Longo, M. Yandell, A. Andrews, N. AhMew, L. Caldovic*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1624-1636
Number of pages13
JournalHuman Mutation
Volume42
Issue number12
Early online date24 Sep 2021
DOIs
Publication statusPublished - Dec 2021

Keywords

  • intron
  • mutation analysis
  • N-acetylglutamate
  • N-acetylglutamate synthase
  • N-acetylglutamate synthase deficiency
  • noncoding sequence variants
  • regulatory element
  • urea cycle
  • urea cycle disorders
  • UREA-CYCLE ENZYMES
  • SYNTHETASE-I GENE
  • GLUCOCORTICOID-RECEPTOR
  • MONOLAYER-CULTURES
  • RAT-LIVER
  • DEFICIENCY
  • EXPRESSION
  • INDUCTION
  • ENHANCER
  • DEXAMETHASONE

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