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

Zoé HenryAlexandre JaninSéverine NonyOriane MarmontelBertrand CariouMarie MarrecCyrielle CaussySybil CharrièrePhilippe MoulinJennifer RieussetFrédéric PerrosMathilde Di Filippo

Published in: Clinical chemistry and laboratory medicine (2023)

Keyphrases

intellectual disability
high throughput
crispr cas
genome wide
early onset
copy number
dna methylation
gene expression