Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
A Rimbert, M Pichelin, S Lecointe, M Marrec… - Atherosclerosis, 2016 - Elsevier
Background and aims Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder
characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB).
Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB
and PCSK9 gene mutations and on western blotting to detect truncated ApoB species.
Methods Here, we applied targeted enrichment and next-generation sequencing (NGS) on a
panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3 …
characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB).
Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB
and PCSK9 gene mutations and on western blotting to detect truncated ApoB species.
Methods Here, we applied targeted enrichment and next-generation sequencing (NGS) on a
panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3 …
以上显示的是最相近的搜索结果。 查看全部搜索结果