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Biochemical Analysis of the LPL Truncation Variant, LPL(S447X) Reveals Increased Lipoprotein Uptake

Lipoprotein lipase (LPL) is responsible for the hydrolysis of triglycerides from circulating lipoproteins. Whereas most identified mutations in the LPL gene are deleterious, one mutation, LPL(S447X), causes a gain-of-function. This mutation truncates two amino acids from LPL's C-terminus. Carri...

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Publicado en:Biochemistry
Autores principales: Hayne, Cassandra K., Lafferty, Michael J., Eglinger, Brian J., Kane, John P., Neher, Saskia B.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5848218/
https://ncbi.nlm.nih.gov/pubmed/27984852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.biochem.6b00945
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