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Titolo:
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria
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 Cape Town, South Africa Univ Cape Town Cape Town South Africa ZA-7925 25 Cape Town, South Africa
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 1, volume: 73, anno: 2001,
pagine: 91 - 96
SICI:
1096-7192(200105)73:1<91:IOTFVP>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTOPORPHYRINOGEN OXIDASE GENE; TRANSLATION; FAMILIES; PPOX;
Keywords:
protoporphyrinogen oxidase; variegate porphyria; porphyria; heme synthesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
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 Cape Town, South Africa Univ Cape Town Cape Town South Africa ZA-7925 South Africa
Citazione:
A.V. Corrigall et al., "Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria", MOL GEN MET, 73(1), 2001, pp. 91-96

Abstract

Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from reduced levels of the penultimate enzyme in the pathway, protoporphyrinogen oxidase. Here we investigate the molecular basis of variegate porphyria in four non-R59W South African families. We report the identification of the first mutation in the protoporphyrinogen oxidase gene in a black South African individual (V290M), In addition, we document three further mutations, a missense mutation (L15F), a deletion followed by a substitution [c769delG;770T > A], and a nonsense mutation (Q375X), in individuals ofEuropean or mixed ancestry. Our data provide further evidence of genetic heterogeneity in South Africa. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/06/20 alle ore 23:33:44