Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

BACKGROUND: Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL variants are associated with hypertriglyceridemia (HTG) an...

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Detalles Bibliográficos
Autores principales: Zhang, Guofu, Hu, Yuepeng, Yang, Qi, Pu, Na, Li, Gang, Zhang, Jingzhu, Tong, Zhihui, Masson, Emmanuelle, Cooper, David N., Chen, Jian-Min, Li, Weiqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422730/
https://www.ncbi.nlm.nih.gov/pubmed/37568214
http://dx.doi.org/10.1186/s12944-023-01898-w

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