Literature DB >> 23160875

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.

Urh Groselj, Mojca Zerjav Tansek, Katarina Trebusak Podkrajsek, Tadej Battelino.   

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Year:  2012        PMID： 23160875     DOI： 10.1007/s10545-012-9562-2

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

Authors:  Elisabeth Sterl; Karl Paul; Eduard Paschke; Johannes Zschocke; Michaela Brunner-Krainz; Eva Windisch; Vassiliki Konstantopoulou; Dorothea Möslinger; Daniela Karall; Sabine Scholl-Bürgi; Wolfgang Sperl; Florian Lagler; Barbara Plecko
Journal:  J Inherit Metab Dis       Date:  2012-04-25       Impact factor: 4.982

2.  Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Authors:  Urh Groselj; Mojca Zerjav Tansek; Jernej Kovac; Tinka Hovnik; Katarina Trebusak Podkrajsek; Tadej Battelino
Journal:  Mol Genet Metab       Date:  2012-04-01       Impact factor: 4.797

3.  Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

Authors:  Iva Karacić; David Meili; Vladimir Sarnavka; Caroline Heintz; Beat Thöny; Danijela Petković Ramadza; Ksenija Fumić; Dusko Mardesić; Ivo Barić; Nenad Blau
Journal:  Mol Genet Metab       Date:  2009-04-01       Impact factor: 4.797
  3 in total

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