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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Acosta, A. X. [1, 2] ; Silva, Jr., W. A. [1, 2] ; Carvalho, T. M. [3] ; Zago, M. A. [1, 2]
Total Authors: 4
Affiliation:
[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
Total Affiliations: 3
Document type: Journal article
Source: Human mutation; v. 17, n. 1 2001.
Web of Science Citations: 7
Abstract

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)