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A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2004

Frascà Giovanni M, Soverini Letizia, Tampieri Elena, Franceschini Guido, Calabresi Laura, Pisciotta Livia, Preda Paola, Vangelista Alba, Stefoni Sergio, Bertolini Stefano

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Identifiers

PMID: 15150357
DOI: 10.1093/ndt/gfh179

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LCAT

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Related research

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A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.PMID 15150357Read ↗

LCAT deficiency: molecular and phenotypic characterization of an Italian family.Semantic proximity Read ↗

Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency.Semantic proximity Read ↗

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.Semantic proximity Read ↗

A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.Semantic proximity Read ↗

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.Semantic proximity Read ↗

Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiencySemantic proximity Read ↗

Molecular characterization of two patients with severe LCAT deficiency.Semantic proximity Read ↗

[LCAT deficiency: a nephrological diagnosis].Semantic proximity Read ↗

Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.Semantic proximity Read ↗

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).Semantic proximity Read ↗

Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.Semantic proximity Read ↗

Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.Semantic proximity Read ↗

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