Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria-Reference-Cited by-同舟云学术

Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria

Published:2015-02-20 Issue:3 Volume:79 Page:162-172
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Gonzaga Ana Denise Gomes¹,de Amorim Lidia Maria da Fonte²,Fonseca Ana Beatriz Monteiro³,Nogueira Tatiana Lucia Santos¹⁴,Pereira Olga Maria Diniz⁵,Nagai Maria Aparecida⁶,de Oliveira Barretto Orlando Cesar⁷,Ribeiro Georgina Severo¹

Affiliation:

1. Departamento de Patologia, Faculdade de Medicina; Universidade Federal Fluminense; Niterói RJ Brazil

2. Departamento de Biologia Celular e Molecular, Instituto de Biologia; Universidade Federal Fluminense; Niterói RJ Brazil

3. Instituto de Matemática e Estatística, Universidade Federal Fluminense; Departamento de Estatística; Niterói Rio de Janeiro Brazil

4. Seção de Genética; Instituto de Biologia do Exército; Rio de Janeiro RJ Brazil

5. Banco de Sangue, Faculdade de Medicina; Universidade Federal Fluminense; Niterói RJ Brazil

6. Departmento de Radiologia e Oncologia, Faculdade de Medicina, Universidade de São Paulo; Laboratório de Genética Molecular; São Paulo SP Brazil

7. Departamento de Psiquiatria, Faculdade de Medicina; Universidade de São Paulo; São Paulo SP Brazil

Funder

FAPESP

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12102/fullpdf

Reference51 articles.

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3. Diagnosis of porphyric syndromes: A practical approach in the era of molecular biology;Bonkovsky;Sem Liv Dis,1998

4. The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay;Bottomley;Am J Clin Pathol,1981

5. Seven novel genetic mutations within the 5′UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria;Brancaleoni;Blood Cells Mol Dis,2012

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