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

Hum Mutat. 1996;8(1):79-82. doi: 10.1002/(SICI)1098-1004(1996)8:1<79::AID-HUMU13>3.0.CO;2-O.

Authors

J S Owen¹, H Wiebusch, P Cullen, G F Watts, V L Lima, H Funke, G Assmann

Affiliation

¹ University Department of Medicine, Royal Free Hospital School of Medicine, London, UK.

PMID: 8807342
DOI: 10.1002/(SICI)1098-1004(1996)8:1<79::AID-HUMU13>3.0.CO;2-O

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Genetic Carrier Screening
Glycine / genetics*
Homozygote*
Humans
Lipids / blood
Male
Mutation*
Pedigree
Phosphatidylcholine-Sterol O-Acyltransferase / blood
Phosphatidylcholine-Sterol O-Acyltransferase / genetics*
Serine / genetics*

Substances

Lipids
Serine
Phosphatidylcholine-Sterol O-Acyltransferase
Glycine