✦ LIBER ✦

Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene

✍ Scribed by James S. Owen; Heiko Wiebusch; Paul Cullen; Gerald F. Watts; Vera L.M. Lima; Harald Funke; Gerd Assmann

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 401 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:1<79::aid-humu13>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Edward G. D. Tuddenhum Epidemiological studies indicate a strong relationship between low levels of circulating highdensity lipoproteins (HDL) and premature coronary heart disease (Gordon and Rifkind, 1989). Paradoxically, several rare, inherited low-HDL syndromes exist without apparent risk of atherosclerosis; these include familial deficiency of plasma lecithin-cholesterol acyltransferase (LCAT)