Biochem Biophys Res Commun. 1992 Jan 31;182(2):583-7.

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

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Biotechnology Centre of Oslo, Norway.

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Biochem Biophys Res Commun 1992 Apr 15;184(1):549.

Abstract

The exons of the lecithin:cholesterol acyltransferase (LCAT) gene in DNA samples from two of the original Swedish Fish Eye Disease patients have been amplified by polymerase chain reactions and sequenced by the dideoxy method. The two patients apparently were unrelated. In both patients a mutation in codon 10 of the first exon was found, altering proline10 to leucine. We note that the mutations causing Fish Eye Disease as well as those causing classical LCAT deficiency are spread over most of the translated gene. Why these various mutations in the same gene give rise to two different disease phenotypes remains unexplained.

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A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. [Proc Natl Acad Sci U S A. 1991]
A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.
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An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.
Biochem Biophys Res Commun. 1992 Jan 31 ;182(2):583-7.

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An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

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