Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil-Reference-Cited by-同舟云学术

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Published:2018-05-10 Issue:4 Volume:6 Page:575-591
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Vieira Neto Eduardo¹²^ORCID,Laranjeira Francisco³,Quelhas Dulce³,Ribeiro Isaura³,Seabra Alexandre³,Mineiro Nicole³,d. M. Carvalho Lilian⁴,Lacerda Lúcia³,G. Ribeiro Márcia²

Affiliation:

1. Gerência de Monitoramento Assistencial; Agência Nacional de Saúde Suplementar; Rio de Janeiro Brazil

2. Serviço de Genética Médica; Instituto de Puericultura e Pediatria Martagão Gesteira; Universidade Federal do Rio de Janeiro; Rio de Janeiro Brazil

3. Centro de Genética Médica Doutor Jacinto Magalhães; Unidade de Bioquímica Genética; Porto Portugal

4. Serviço de Metabologia; Instituto de Diabetes e Endocrinologia Luiz Capriglione; Rio de Janeiro Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.408/fullpdf

Reference53 articles.

1. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria;Acosta;Human Mutation,2001

2. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria;Aldamiz-Echevarria;Journal of Human Genetics,2016

3. White matter pathology in phenylketonuria;Anderson;Molecular Genetics and Metabolism,2010

4. Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India;Bashyam;Journal of Cellular Biochemistry,2014

5. Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria;Biglari;Springerplus,2015

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