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

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

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 am...

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Bibliographic Details
Main Authors: George Argyropoulos, Alicia Jenkins, Richard L. Klein, Timothy Lyons, Brett Wagenhorst, Jonny St. Armand, Santica M. Marcovina, John J. Albers, P. Haydn Pritchard, W. Timothy Garvey
Format: Article
Language:English
Published: Elsevier 1998-09-01
Series:Journal of Lipid Research
Subjects:
high density lipoprotein
LCAT activity
polymerase chain reaction
lipoprotein [a]
substrate recognition binding site
familial LCAT deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520321751

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http://www.sciencedirect.com/science/article/pii/S0022227520321751

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