Publications by authors named "Carl D Akin"
Atherosclerosis
January 2005
Article Synopsis
- Two new mutations in the APOB gene were discovered that lead to shortened apolipoprotein B proteins, linked to familial hypobetalipoproteinemia (FHBL), with specific changes observed in several families.
- In particular, one family exhibited a 5 bp deletion causing a premature stop codon, while another had a point mutation that also resulted in a truncation.
- Additionally, the study found that variations in the apolipoprotein E (apoE) gene significantly influenced LDL cholesterol and apoB levels in FHBL patients, suggesting that these genetic factors contribute to the observed LDL cholesterol variability in affected individuals.
