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Titolo:
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
Autore:
Gilbert, B; Rouis, M; Griglio, S; de Lumley, L; Laplaud, PM;
Indirizzi:
Hop Dupuytren, Unite Genet, Limoges, France Hop Dupuytren Limoges France op Dupuytren, Unite Genet, Limoges, France Hop Pitie, INSERM, U321, F-75651 Paris, France Hop Pitie Paris France F-75651 itie, INSERM, U321, F-75651 Paris, France Hop Dupuytren, Serv Pediat, Limoges, France Hop Dupuytren Limoges France op Dupuytren, Serv Pediat, Limoges, France Hop Dupuytren, Lab Biochim & Genet Mol, Limoges, France Hop Dupuytren Limoges France , Lab Biochim & Genet Mol, Limoges, France
Titolo Testata:
ANNALES DE GENETIQUE
fascicolo: 1, volume: 44, anno: 2001,
pagine: 25 - 32
SICI:
0003-3995(200101/03)44:1<25:LL(DAN>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CAUSES FAMILIAL CHYLOMICRONEMIA; C-TERMINAL DOMAIN; MISSENSE MUTATION; COMPOUND HETEROZYGOTE; NONSENSE MUTATION; I HYPERLIPOPROTEINEMIA; PREMATURE ATHEROSCLEROSIS; COMBINED HYPERLIPIDEMIA; DIFFERENT ANCESTRIES; FRAMESHIFT MUTATION;
Keywords:
chylomicronemia; hypertriglyceridemia; lipoprotein lipase deficiency; lipoprotein lipase gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
91
Recensione:
Indirizzi per estratti:
Indirizzo: Gilbert, B Hop Dupuytren, Unite Genet, Limoges, France Hop Dupuytren Limoges France n, Unite Genet, Limoges, France
Citazione:
B. Gilbert et al., "Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6", ANN GENET, 44(1), 2001, pp. 25-32

Abstract

We have investigated the lipoprotein lipase (LPL) gene of a 2-year-old patient presenting classical features of the familial LPL deficiency includingundetectable LPL activity. DNA sequence analysis of exon 5 identified the patient as a homozygote for the Gly188Glu mutation, frequently involved in this disease. A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease. Gly188Glu was involved in 23.5 % of cases and 74.6 % of mutations were clustered in exons 5 and 6. Based on these observations, we propose a method of screening for mutations in this gene. (C) 2001 Editions scientifiques et medicales Elsevier SAS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 22:35:00