Literature DB >> 7866411

Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus.

M Zygulska1, A Eigel, J J Pietrzyk, J Horst.   

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Year:  1994        PMID： 7866411     DOI： 10.1002/humu.1380040412

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


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  3 in total

1.  Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Authors:  P Guldberg; H L Levy; W B Hanley; R Koch; R Matalon; B M Rouse; F Trefz; F de la Cruz; K F Henriksen; F Güttler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Authors:  L Kozák; M Blazková; V Kuhrová; A Pijácková; S Růzicková; S St'astná
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

3.  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
  3 in total

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