Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review

This study described a Chinese patient with severe HTG carrying compound heterozygous variants of a rare nonsense variant p.W168X in exon 3 and a missense variant p.R416Q in exon 9 in the LMF1 gene. These heterozygous variants account for his family's decreased lipase activity and mass, which caused the FCS phenotype.PMID:38462482 | DOI:10.5551/jat.64697
Source: Journal of Atherosclerosis and Thrombosis - Category: Cardiology Authors: Source Type: research