Literature DB >> 12649065

DHPLC mutation analysis of phenylketonuria.

Saskia Bräutigam1, Annegret Kujat, Peter Kirst, Joerg Seidel, H Umit Lüleyap, Ursula G Froster.   

Abstract

Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast method for the detection of mutations which has been successfully used for mutation screening in several disease-related genes. Phenylketonuria (PKU, OMIM* 261600; McKusick 1986) is one of the most common autosomal recessive disorders in Europe. Mutations in the PAH gene mainly involve point mutations. In this study we report the successful use of DHPLC to analyse rapidly the complete coding sequence of the PAH gene in a total of 125 unrelated patients with PKU. Copyright 2003 Elsevier Science Ltd.

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Year:  2003        PMID： 12649065     DOI： 10.1016/s1096-7192(02)00228-7

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  3 in total

1.  The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Authors:  Gladys Ho; Ian Alexander; Kaustuv Bhattacharya; Barbara Dennison; Carolyn Ellaway; Sue Thompson; Bridget Wilcken; John Christodoulou
Journal:  JIMD Rep       Date:  2013-12-25

2.  Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Authors:  Elise Jeannesson-Thivisol; François Feillet; Céline Chéry; Pascal Perrin; Shyue-Fang Battaglia-Hsu; Bernard Herbeth; Aline Cano; Magalie Barth; Alain Fouilhoux; Karine Mention; François Labarthe; Jean-Baptiste Arnoux; François Maillot; Catherine Lenaerts; Cécile Dumesnil; Kathy Wagner; Daniel Terral; Pierre Broué; Loïc de Parscau; Claire Gay; Alice Kuster; Antoine Bédu; Gérard Besson; Delphine Lamireau; Sylvie Odent; Alice Masurel; Jean-Louis Guéant; Fares Namour
Journal:  Orphanet J Rare Dis       Date:  2015-12-15       Impact factor: 4.123

3.  Rapid detection of PAH gene mutations in Chinese people.

Authors:  Xin Zhang; Huan-Xin Chen; Chuan Li; Gui Zhang; Sheng-Yun Liao; Zhuo-Chun Peng; Xiao-Ping Lai; Ling-Li Wang
Journal:  BMC Med Genet       Date:  2019-08-05       Impact factor: 2.103
  3 in total

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