Literature DB >> 18387838

Single exon deletions in the PAH gene in Polish PKU-patients.

Miroslaw Bik-Multanowski, Jacek J Pietrzyk.   

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Year:  2008        PMID： 18387838     DOI： 10.1016/j.ymgme.2008.02.007

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


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  3 in total

1.  A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.

Authors:  Yoshihiro Maruo; Masafumi Suzaki; Katsuyuki Matsui; Yu Mimura; Asami Mori; Haruo Shintaku; Yoshihiro Takeuchi
Journal:  World J Pediatr       Date:  2015-04-30       Impact factor: 2.764

2.  Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria.

Authors:  Volodymyr Pampukha; Maryna Nechyporenko; Ludmila Livshyts
Journal:  Genes Dis       Date:  2016-12-14

3.  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
  3 in total

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