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

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.

authors

Skretting G,Prydz H

doi

10.1016/0006-291x(92)91772-i

subject

Has Abstract

pub_date

1992-01-31 00:00:00

pages

583-7

issue

2

eissn

0006-291X

issn

1090-2104

pii

0006-291X(92)91772-I

journal_volume

182

pub_type

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