The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function

BACKGROUND: Lipoprotein lipase (LPL) is the key enzyme responsible for the hydrolysis of triglycerides. Loss-of-function variants in the LPL gene are associated with hypertriglyceridemia (HTG) and HTG-related diseases. Unlike nonsense, frameshift and canonical GT-AG splice site variants, a pathogeni...

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Detalles Bibliográficos
Autores principales: Hu, Yuepeng, Zhang, Guofu, Yang, Qi, Pu, Na, Li, Kaiwei, Li, Baiqiang, Cooper, David N., Tong, Zhihui, Li, Weiqin, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405562/
https://www.ncbi.nlm.nih.gov/pubmed/37550668
http://dx.doi.org/10.1186/s12944-023-01875-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405562/
https://www.ncbi.nlm.nih.gov/pubmed/37550668
http://dx.doi.org/10.1186/s12944-023-01875-3

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