present in Gene: LCAT;SLC12A4
present in Chromosome: 16
Position on Chromosome: 67944001
Alleles of this Variant: G/A
rs121908051 in
LCAT;SLC12A4 gene and
Fish-Eye Disease
PMID 9261271 1997 Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.
PMID 1516702 1992 The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.
PMID 21901787 2011 High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
PMID 1571050 1992 An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.
PMID 8620346 1996 Two novel molecular defects in the LCAT gene are associated with fish eye disease.
PMID 1737840 1992 Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
PMID 15994445 2005 The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.