Molecular characterization of two patients with severe LCAT deficiency

Nephrology Dialysis Transplantation

Volumn 22, Issue 8, 2007, Pages 2379-2382

  Charlton Menys, Valentine ^a   Pisciotta, Livia ^b   Durrington, Paul N ^a   Neary, Richard ^a   Short, Colin D ^a   Calabresi, Laura ^c   Calandra, Sebastiano ^d   Bertolini, Stefano ^b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

HDL deficiency; LCAT deficiency; LCAT mutations; Renal disease; Serum paraoxonase activity

Indexed keywords

PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; ANAMNESIS; ANEMIA; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; CORNEA OPACITY; DISEASE SEVERITY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOLIPOPROTEINEMIA; KIDNEY BIOPSY; KIDNEY FIBROSIS; LABORATORY TEST; MALE; PRIORITY JOURNAL;

ADULT; ARYLDIALKYLPHOSPHATASE; CORNEAL DISEASES; FEMALE; HUMANS; KIDNEY DISEASES; LECITHIN ACYLTRANSFERASE DEFICIENCY; LIPOPROTEINS; LIPOPROTEINS, HDL; MALE; MICROSCOPY, ELECTRON; MUTATION;

EID: 34547843585     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfm311     Document Type: Article

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