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Your search keyword '"Moulin, A."' showing total 2 results
Start Over Author "Moulin, A." Topic hypobetalipoproteinemia Publisher de gruyter
2 results on '"Moulin, A."'

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

Author

Henry, Zoé, Janin, Alexandre, Nony, Séverine, Marmontel, Oriane, Cariou, Bertrand, Marrec, Marie, Caussy, Cyrielle, Charrière, Sybil, Moulin, Philippe, Rieusset, Jennifer, Perros, Frédéric, and Di Filippo, Mathilde

Subjects
*APOLIPOPROTEIN B, *MISSENSE mutation, *GENETIC disorder diagnosis, *ASPARTATE aminotransferase, *VITAMIN A, *NON-alcoholic fatty liver disease
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. [Extracted from the article]

Published
2023
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