Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.

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Article

Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.

Journal of lipid research - 1 Sept 1998

Argyropoulos G, Jenkins A, Klein R L, Lyons T, Wagenhorst B, St Armand J, Marcovina S M, Albers J J, Pritchard P H, Garvey W T

Abstract excerpt

Two novel mutations were identified in a compound heterozygous male with lecithin:cholesterol acyltransferase (LCAT) deficiency. Exon sequence determination of the LCAT gene of the proband revealed two novel heterozygous mutations in exons one (C110T) and six (C991T) that predict non-conservative amino acid substitutions (Thr13Met and Pro307Ser, respectively). To assess the distinct functional impact of the...

Topics

Adult
Apolipoprotein A-I
Cholesterol
Cholesterol Esters
Exons
Female
Heterozygote
Humans
Kinetics
Lecithin Cholesterol Acyltransferase Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipoproteins, HDL

Male

Mutation

Pedigree

Phosphatidylcholine-Sterol O-Acyltransferase

Polymerase Chain Reaction

Sequence Analysis, DNA

Structure-Activity Relationship

Source

Open in PubMed

Identifiers

PMID: 9741700

Genes

LCAT

Variants

Provenance

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