Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria
Autore:
Yu, S; Poulos, V; Stewart, P;
Indirizzi:
Royal Prince Alfred Hosp, Dept Clin Biochem, Camperdown, NSW 2050, Australia Royal Prince Alfred Hosp Camperdown NSW Australia 2050 SW 2050, Australia
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 45, anno: 2000,
pagine: 367 - 369
SICI:
1434-5161(2000)45:6<367:ANMIAF>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
PORPHOBILINOGEN DEAMINASE GENE;
Keywords:
acute intermittent porphyria; DNA testing; splicing defect; DNA sequencing; porphobilinogen deaminase; porphobilinogen deaminase gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: Yu, S Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, 72 King WilliamRd, Adelaide, SA 5006, Australia Womens & Childrens Hosp 72 King William Rd Adelaide SA Australia 5006
Citazione:
S. Yu et al., "A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria", J HUM GENET, 45(6), 2000, pp. 367-369

Abstract

Acute intermittent nt porphyria (AIP), an autosomal dominant disorder, is divided into two forms, the classical form (mort than 95%) and the non-erythroid variant form, according to erythroid porphobilinogen deaminase (PBGD)activity. In the variant form, the PBGD activity is essentially normal. Detection of presymptomatic mutation carriers relies on a DNA test. This variant form of AIP is very rare, with only nine families carrying five different mutations reported ill the literature, Here we report a novel G-to-T transversion in the first position of intron 1 of the PBGD gene in a family with this variant form of AIP. We also review all previously reported cases and propose an effective diagnostic approach.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 00:18:37