Literature DB >> 8535444

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.

I Dianzani1, P M Knappskog, L de Sanctis, S Giannattasio, E Riva, A Ponzone, J Apold, C Camaschella.   

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Year:  1995        PMID： 8535444     DOI： 10.1002/humu.1380060308

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


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  2 in total

1.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

2.  The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.

Authors:  Maja Stojiljkovic; Belén Pérez; Lourdes R Desviat; Cristina Aguado; Magdalena Ugarte; Sonja Pavlovic
Journal:  Protein J       Date:  2009-08       Impact factor: 2.371
  2 in total

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