Ten Novel Mutations in the Phenylalanine Hydroxylase Gene (PAH) Observed in Brazilian Patients With Phenylketonuria

Autor(es)

Acosta, A. X. ^{[1, 2]} ; Silva, Jr., W. A. ^{[1, 2]} ; Carvalho, T. M. ^[3] ; Zago, M. A. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Fac Med Ribeirao Preto, Sao Paulo - Brazil

^[2] Fundacao Hemoctr Ribeirao Preto, Rua Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, SP - Brazil

^[3] APAE SP Associacao Pais & Amigos Excepcionais, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Human mutation; v. 17, n. 1 2001.
• Citações Web of Science: 7

Resumo

In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the characterization of the PAH genotypes of 115 patients with PKU from the southeast region of Brazil. The results obtained confirm the high heterogeneity of the PAH gene and provide information about the distribution of PKU mutations in the Brazilian population. (C) 2000 Wiley-Liss, Inc. (AU)

• Processo FAPESP: 98/09083-4 - Análise molecular do gene da fenilalanina hidroxilase em pacientes com fenilcetonúria
• Beneficiário: Angelina Xavier Acosta
• Modalidade de apoio: Bolsas no Brasil - Doutorado