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Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.

Mutations in the phenylalanine hydroxylase (PAH) gene were identified in a group of untreated phenylketonuria patients from Victoria, Australia. Ninety-eight percent of the alleles were identified, and a total of 26 different mutations were detected on 83 independent chromosomes. The three most prev...

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Autors principals: Ramus, S J, Treacy, E P, Cotton, R G
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801443/
https://ncbi.nlm.nih.gov/pubmed/7726156
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