A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria-Reference-Cited by-同舟云学术

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Published:2007 Issue:4 Volume:30 Page:1051-1053
ISSN:1415-4757
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Ribeiro Georgina Severo¹,Marchiori Paulo Eurípedes²,Hirata Mário Hiroyuki²,Rebecchi Ivanise²,Ozaki Adriana Natsue²,Nagai Maria Aparecida²,Santos Mariana Lopes dos²,Oliveira Raimundo Antonio Gomes³,Barretto Orlando Cesar de Oliveira²

Affiliation:

1. Universidade Federal Fluminense, Brazil; Universidade de São Paulo, Brazil

2. Universidade de São Paulo, Brazil

3. Universidade Federal do Maranhão, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v30n4/03.pdf

Reference10 articles.

1. Hematologically important mutations: Acute intermittent porphyria;Cappelini MD;Blood Cells Mol Dis,2002

2. Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3;Llewellyn DH;J Med Genet,1996

3. Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria;Lundin G;J Med Genet,1995

4. Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria;Mustajoki S;Hum Genet,1998

5. Porphobilinogen deaminase gene mutations in Brazilian Acute Intermittent Porphyria patients;Ribeiro GS;J Clin Lab Anal,2002

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1. Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria;Annals of Human Genetics;2015-02-20