Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene

Hum Mol Genet. 1995 Jan;4(1):143-5. doi: 10.1093/hmg/4.1.143.

Authors

H Wiebusch¹, P Cullen, J S Owen, D Collins, P S Sharp, H Funke, G Assmann

Affiliation

¹ Institut für Arterioskleroseforschung an der Universität Münster, Germany.

PMID: 7711728
DOI: 10.1093/hmg/4.1.143

No abstract available

MeSH terms

Adolescent
Aged
Amino Acid Sequence
Arginine / genetics*
Base Sequence
Female
Glycine / genetics*
Heterozygote
Humans
Lecithin Cholesterol Acyltransferase Deficiency / genetics*
Middle Aged
Molecular Sequence Data
Mutagenesis, Insertional
Mutation*
Oligodeoxyribonucleotides
Phosphatidylcholine-Sterol O-Acyltransferase / genetics*

Substances

Oligodeoxyribonucleotides
Arginine
Phosphatidylcholine-Sterol O-Acyltransferase
Glycine