Literature DB >> 7749420

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

B Pérez1, L R Desviat, M Ugarte.   

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Year:  1995        PMID： 7749420     DOI： 10.1002/humu.1380050217

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


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  2 in total

1.  Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  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 in total

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