| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria
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| 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
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| Data: |
2007-01-01
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| Ano: |
2007
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| Palavras-chave: |
Acute intermittent porphyria
Hydroxymethylbilane synthase
Porphobilinogen deaminase
HMBS gene
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| 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572007000600003
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.30 n.4 2007
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| Direitos: |
info:eu-repo/semantics/openAccess
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