Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 11, 2009, Pages 4584-4590

  Cefalù, Angelo B ^a   Noto, Davide ^a   Arpi, Maria Luisa ^b   Yin, Fen ^c,d,e   Spina, Rossella ^a   Hilden, Hannele ^f   Barbagallo, Carlo M ^a   Carroccio, Antonio ^a   Tarugi, Patrizia ^g   Squatrito, Sebastiano ^b   Vigneri, Riccardo ^b   Taskinen, Marja Riitta ^f   Péterfy, Miklós ^c,d,e   Averna, Maurizio R ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; FENOFIBRATE; GEMFIBROZIL; GENE PRODUCT; GENOMIC DNA; INSULIN ASPART; LIPASE MATURATION FACTOR 1; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ACUTE PANCREATITIS; ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; DIET RESTRICTION; DISEASE SEVERITY; DNA EXTRACTION; ENZYME ACTIVITY; EXON; FAT INTAKE; FOLLOW UP; GENE SEQUENCE; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; LABORATORY TEST; MALE; NONSENSE MUTATION; OBESITY; ONSET AGE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; QUANTITATIVE ANALYSIS; RECURRENT DISEASE; SEQUENCE ANALYSIS; STOP CODON; TRIACYLGLYCEROL BLOOD LEVEL; VITAMIN SUPPLEMENTATION;

EID: 70449116131     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0594     Document Type: Article

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