Literature DB >> 8889586

Mutation analysis of phenylketonuria in south Brazil.

B Pérez1, L R Desviat, M De Lucca, B Schmidt, N Loghin-Grosso, R Giugliani, R F Pires, M Ugarte.   

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Year:  1996        PMID： 8889586     DOI： 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

Review 1.  Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

Authors:  L A Tyfield
Journal:  Mol Pathol       Date:  1997-08

2.  Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Authors:  I Rivera; P Leandro; U Lichter-Konecki; I Tavares de Almeida; M C Lechner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

3.  Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

Authors:  Morteza Bagheri; Isa Abdi Rad; Nima Hosseini Jazani; Rasoul Zarrin; Ahad Ghazavi
Journal:  Maedica (Buchar)       Date:  2014-09

4.  Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

Authors:  B Pérez; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

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

Authors:  Eduardo Vieira Neto; Francisco Laranjeira; Dulce Quelhas; Isaura Ribeiro; Alexandre Seabra; Nicole Mineiro; Lilian D M Carvalho; Lúcia Lacerda; Márcia G Ribeiro
Journal:  Mol Genet Genomic Med       Date:  2018-05-10       Impact factor: 2.183
  5 in total

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