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Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder, typically caused by biallelic pathogenic variants in the lipoprotein lipase (LPL) gene. Lipoprotein lipase, encoded by the LPL gene, catalyzes the hydrolysis of triglycerides, and its deficiency or dysfunctio...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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AME Publishing Company
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636460/ https://www.ncbi.nlm.nih.gov/pubmed/36345447 http://dx.doi.org/10.21037/tp-22-15 |