In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

Heli Venhoranta, Hubert Pausch, Krzysztof Flisikowski, Christine Wurmser, Juhani Taponen, Helena Rautala, Alexander Kind, Angelika Schnieke, Ruedi Fries, Hannes Lohi, Magnus Andersson

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number890
JournalBMC Genomics
Volume15
Number of pages9
ISSN1471-2164
DOIs
Publication statusPublished - 12 Oct 2014
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Kaufman oculocerebrofacial syndrome
  • Increased juvenile mortality
  • Intellectual disability
  • Structural malformation
  • UBE3B
  • Bovine
  • Splicing cite mutation
  • STRUCTURE PREDICTION
  • SPLICING ENHANCERS
  • ANGELMAN-SYNDROME
  • GENE
  • MUTATIONS
  • POPULATION
  • SPECTRUM
  • TOOL
  • WEB
  • 413 Veterinary science

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