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- Title
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
- Authors
Henry, Zoé; Janin, Alexandre; Nony, Séverine; Marmontel, Oriane; Cariou, Bertrand; Marrec, Marie; Caussy, Cyrielle; Charrière, Sybil; Moulin, Philippe; Rieusset, Jennifer; Perros, Frédéric; Di Filippo, Mathilde
- Abstract
Keywords: APOB gene; hypobetalipoproteinemia; minigene; splicing mutation EN APOB gene hypobetalipoproteinemia minigene splicing mutation e259 e262 4 10/30/23 20231101 NES 231101 To the Editor, Hypobetalipoproteinemia (HBL) is characterized by reduced plasma levels of low-density lipoprotein cholesterol (LDLc) and apolipoprotein B (ApoB) below the fifth percentile adjusted for age and sex [[1]]. Hypobetalipoproteinemia, APOB gene, minigene, splicing mutation.
- Subjects
APOLIPOPROTEIN B; MISSENSE mutation; GENETIC disorder diagnosis; ASPARTATE aminotransferase; VITAMIN A; NON-alcoholic fatty liver disease
- Publication
Clinical Chemistry & Laboratory Medicine, 2023, Vol 61, Issue 12, pe259
- ISSN
1434-6621
- Publication type
Article
- DOI
10.1515/cclm-2023-0330