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Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen

2 Dec 2021

Abstract excerpt

Rare variants and blood LDL cholesterol A current goal in genomics is to identify genetic variation associated with actionable traits of clinical concern. Through exome sequencing of an Old Order Amish population, Montasser et al . identified a genetic variant that results in an amino acid change in the beta-1,4-galactosyltransferase 1 protein and is correlated with lower levels of cardiovascular disease....

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PMID: 34855475
DOI: 10.1126/science.abe0348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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