Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T

Clin Chem Lab Med. 2023 Jun 14;61(12):e259-e262. doi: 10.1515/cclm-2023-0330. Print 2023 Nov 27.
No abstract available

Keywords: APOB gene; hypobetalipoproteinemia; minigene; splicing mutation.

Publication types

  • Letter

MeSH terms

  • Apolipoproteins B / genetics
  • Humans
  • Hypobetalipoproteinemias* / genetics
  • Mutation
  • Mutation, Missense*
  • RNA Splicing

Substances

  • Apolipoproteins B