Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

Lydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin, Kirsi Kiiski

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number905
JournalGenes
Volume13
Issue number5
Number of pages13
ISSN2073-4425
DOIs
Publication statusPublished - May 2022
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Droplet Digital PCR
  • titin
  • TTN
  • copy number variation
  • segmental duplication
  • SKELETAL-MUSCLE SARCOMERE
  • TITIN
  • NEBULIN
  • MUTATIONS
  • PROTEIN
  • LENGTH
  • GENE
  • FILAMENTS
  • TEMPLATE
  • ACTIN
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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