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

Volumn 19, Issue 6, 2004, Pages 1622-1624

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

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c Internal Medicine Department   (Italy)

Author keywords

Chronic renal failure; Focal segmental glomerulosclerosis; Genetic diseases; Hereditary nephropathies; Lecithin cholesterol acyltransferase (LCAT) deficiency; Nephrotic syndrome

Indexed keywords

ACETYLSALICYLIC ACID; ENALAPRIL; GEMFIBROZIL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SIMVASTATIN; STEROID;

ADULT; ARTICLE; CASE REPORT; FAMILY HISTORY; FOCAL GLOMERULONEPHRITIS; GENE MUTATION; GENETIC ANALYSIS; GLOMERULUS FILTRATION RATE; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPOLIPOPROTEINEMIA; KIDNEY BIOPSY; KIDNEY FUNCTION; LABORATORY TEST; MALE; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEINURIA;

ADULT; BASEMENT MEMBRANE; HUMANS; KIDNEY GLOMERULUS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; MUTATION; NEPHROTIC SYNDROME; PEDIGREE;

EID: 2942744587     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfh179     Document Type: Article

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