Data/hora: 04/06/2024 10:51:46

Provedor de dados: 	74	
País: 	Brazil	
Título: 	A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria	
Autores: 	Ribeiro,Georgina Severo; Marchiori,Paulo Eurípedes; Hirata,Mário Hiroyuki; Rebecchi,Ivanise; Ozaki,Adriana Natsue; Nagai,Maria Aparecida; Santos,Mariana Lopes dos; Oliveira,Raimundo Antonio Gomes; Barretto,Orlando Cesar de Oliveira.	
Data: 	2007-01-01	
Ano: 	2007	
Palavras-chave: 	Acute intermittent porphyria; Hydroxymethylbilane synthase; Porphobilinogen deaminase; HMBS gene.	
Resumo: 	Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572007000600003	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.30 n.4 2007	
Fonte: 	info:eu-repo/semantics/openAccess