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Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

Independent phenylketonuria (PKU) chromosomes (n = 109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal regi...

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Détails bibliographiques
Auteurs principaux: Rozen, R., Mascisch, A., Lambert, M., Laframboise, R., Scriver, C. R.
Format: Artigo
Langue:Inglês
Publié: 1994
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918360/
https://ncbi.nlm.nih.gov/pubmed/7913581
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