Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302 > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia))

Clinical Genetics

Volumn 57, Issue 2, 2000, Pages 140-147

  Bertolini, S ^a   Simone, Ml ^b   Pes, Gm ^c   Ghisellini, M ^b   Rolleri, M ^a   Bellocchio, A ^a   Elicio, N ^a   Masturzo, P ^a   Calandra, S ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

Author keywords

Genetic screening; Lipoprotein lipase deficiency; Nonsense mutation; Primary hyperchylomicronemia

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGED; ARTICLE; BETA THALASSEMIA; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; DYSLIPIDEMIA; ENZYME DEFICIENCY; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; HOMOZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; ITALY; MALE; NONSENSE MUTATION; PANCREATITIS; PRIORITY JOURNAL; RECURRENT DISEASE; SINGLE STRAND CONFORMATION POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

APOLIPOPROTEINS E; BETA-THALASSEMIA; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; ITALY; LIPIDS; LIPOPROTEIN LIPASE; MALE; MUTATION; PEDIGREE;

EID: 0034001513     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570209.x     Document Type: Article

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