Rare mutation of angiopoietin-like protein 8 gene and severe hypertriglyceridemia / 基础医学与临床
Basic & Clinical Medicine
;
(12): 622-625, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-693953
ABSTRACT
Objective To screen new mutations of ANGPTL8 gene in severe hypertriglyceridemia population.Meth-ods We designed a capture array encompassing all coding regions of the target genes for next -generation sequencing (NGS)in a cohort of 43 unrelated patients with severe hypertriglyceridemia.First, to exclude known TG related gene mutations,then the ANGPTL8 mutation was screened and the Sanger sequencing was performed.In combina-tion with functional prediction and conservatism analysis, the pathogenic mutation was finally screened.Results After bioinformatics analysis, a new ANGPTL8 mutation was identified in 43 patients with severe hypertriglyceri-demia.Conclusions Through ANGPTL8 mutation screening for severe hypertriglyceridemia in this study, a new rare mutation is found.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Basic & Clinical Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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