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 hypertrigl...

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Dades bibliogràfiques
Publicat a:J Clin Lab Anal
Autors principals: 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: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817128/
https://ncbi.nlm.nih.gov/pubmed/29479812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22414
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