Article
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.
Biochemical and biophysical research communications - 31 Jan 1992
Skretting G, Prydz H
Abstract excerpt
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...
Topics
- Base Sequence
- Corneal Diseases
- DNA
- Exons
- Humans
- Lipoproteins
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phosphatidylcholine-Sterol O-Acyltransferase
- Polymerase Chain Reaction