Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

BACKGROUND: Type I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene. To date, more than 200 mutations in the LPL gene have been reported, while only a limited number of mutations have been evaluated...

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Detalles Bibliográficos
Autores principales: Wang, Shuping, Cheng, Yiping, Shi, Yingzhou, Zhao, Wanyi, Gao, Ling, Fang, Li, Jin, Xiaolong, Han, Xiaoyan, Sun, Qiuying, Li, Guimei, Zhao, Jiajun, Xu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339609/
https://www.ncbi.nlm.nih.gov/pubmed/35923617
http://dx.doi.org/10.3389/fendo.2022.874608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339609/
https://www.ncbi.nlm.nih.gov/pubmed/35923617
http://dx.doi.org/10.3389/fendo.2022.874608

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