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Titolo:
Homozygous variegate porphyria in South Africa: Genotypic analysis in two cases
Autore:
Corrigall, AV; Hift, RJ; Davids, LM; Hancock, V; Meissner, D; Kirsch, RE; Meissner, PN;
Indirizzi:
Univ Cape Town, Sch Med, Dept Med, MRC,UCT Liver Res Ctr,Lennox Eales Porphyria Labs, ZA-7925 Observatory, South Africa Univ Cape Town Observatory South Africa ZA-7925 bservatory, South Africa
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 4, volume: 69, anno: 2000,
pagine: 323 - 330
SICI:
1096-7192(200004)69:4<323:HVPISA>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTOPORPHYRINOGEN OXIDASE GENE; IDENTIFICATION; MUTATIONS; FAMILIES; DISEASE; CLONING; MUTANT; CDNA; PPOX;
Keywords:
homozygous variegate porphyria; variegate porphyria; porphyria; mutations; protoporphyrinogen oxidase; heme biosynthesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Corrigall, AV Univ Cape Town, Sch Med, Dept Med, MRC,UCT Liver Res Ctr,Lennox Eales Porphyria Labs, ZA-7925 Observatory, South Africa Univ Cape TownObservatory South Africa ZA-7925 uth Africa
Citazione:
A.V. Corrigall et al., "Homozygous variegate porphyria in South Africa: Genotypic analysis in two cases", MOL GEN MET, 69(4), 2000, pp. 323-330

Abstract

Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests post-pubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegate porphyria, onset of the disease usually occurs in infancy with severe skin manifestations. The molecular basis of variegate porphyria in two severely affected probands in two South African families is described. Mutation detection included combined SSCP-heteroduplex analysis followed by direct sequencing. The unrelated probands both had the common R59W mutation while the other lesion was Y348C or R138P (both novel mutations), causing homozygous variegate porphyria. (C) 2000 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 21:44:32