Article
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.
Lancet (London, England) - 28 Sept 1991
Gotoda T, Yamada N, Murase T, Sakuma M, Murayama N, Shimano H, Kozaki K, Albers J J, Yazaki Y, Akanuma Y
Abstract excerpt
Familial deficiency of lecithin:cholesterol acyltransferase (LCAT) is an autosomal recessive disorder characterised by abnormalities of all plasma lipoprotein classes and by abnormal deposition of unesterified cholesterol in tissues. To elucidate the molecular basis of the disease, the LCAT genes of three unrelated Japanese patients were amplified by means of the polymerase chain reaction. Direct sequencing of...
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