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

scientific article (publication date: 31 January 1992)

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/0006-291X(92)91772-I
P698PubMed publication ID1571050

P2093author name stringG Skretting
H Prydz
P433issue2
P407language of work or nameEnglishQ1860
P921main subjecteye diseaseQ3041498
P304page(s)583-7
P577publication date1992-01-31
P1433published inBiochemical and Biophysical Research CommunicationsQ864228
P1476titleAn amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
P478volume182

Reverse relations

cites work (P2860)
Q51756725A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency.
Q71867077A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency
Q34386276A unique genetic and biochemical presentation of fish-eye disease
Q37357561An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).
Q34362195Clinical and histopathological features of a suspected case of fish-eye disease
Q44361735Deletion of N-terminal amino acids from human lecithin:cholesterol acyltransferase differentially affects enzyme activity toward alpha- and beta-substrate lipoproteins
Q73407801Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop)
Q34386695Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype
Q34114305Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis
Q73359069Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins
Q33891534Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
Q52509864In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.
Q34120460Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease
Q24336364Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
Q41041206T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency
Q28263895The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families

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