Data/hora: 02/06/2024 01:15:36

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