Rare LPL gene missense mutation in an infant with hypertriglyceridemia

Background Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene. Objectives The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyc...

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Veröffentlicht in:	Journal of clinical laboratory analysis 2018-07, Vol.32 (6), p.e22414-n/a
Hauptverfasser:	Qin, Yuan‐yuan, Wei, Ai‐qiu, Shan, Qing‐wen, Xian, Xiao‐ying, Wu, Yang‐yang, Liao, Lin, Yan, Jie, Lai, Zhan‐feng, Lin, Fa‐quan
Format:	Artikel
Sprache:	eng
Schlagworte:	Arginine DNA sequencing Environmental factors heterozygous Hypertriglyceridemia Leucine Lipase Lipoprotein lipase LPL gene missense Missense mutation Molecular modelling Mutation Pathogenicity
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