Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients-Reference-Cited by-同舟云学术

Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients

Published:2002 Issue:5 Volume:16 Page:259-265
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J. Clin. Lab. Anal.

Author:

Ribeiro Georgina Severo,Marchiori Paulo Eur�pedes,Kuntz Puglia Paula Marzorati,Nagai Maria Aparecida,dos Santos Mariana Lopes,Nonoyama Kimiyo,Hirata M�rio Hiroyuki,Barretto Orlando C.O.

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Reference24 articles.

1. The porphyrias. In: editors. The metabolic basis of inherited disease. 7th ed. New York: McGraw Hill; 1995. p 2103-2159.

2. Acute Intermittent Porphyria

3. Alterations in Haem Biosynthesis during the Human Menstrual Cycle: Studies in Normal Subjects and Patients with Latent and Active Acute Intermittent Porphyria

4. Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

5. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. EVIDENCE FOR AN ANCESTRAL FOUNDER OF THE COMMON R116W MUTATION IN THE HYDROXYMETHYLBILANE SYNTHASE GENE IN ACUTE INTERMITTENT PORPHYRIA IN THE NETHERLANDS;CELL MOL BIOL;2009

3. A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria;Genetics and Molecular Biology;2007