Literature DB >> 1301193

Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.

S W John1, R Rozen, R Laframboise, C Laberge, C R Scriver.   

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Year:  1992        PMID： 1301193     DOI： 10.1002/humu.1380010112

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


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  1 in total

1.  The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

Authors:  P M Knappskog; H G Eiken; A Martinez; T Flatmark; J Apold
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132
  1 in total

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