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Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

We present a multistep approach for the rapid analysis of phenylketonuria (PKU) mutations. In the first step, three common mutations and a polymorphic short tandem repeat (STR) system are rapidly analyzed with a fluorescent multiplex assay. In the second step, minihaplotypes combining STR and VNTR d...

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Bibliografiske detaljer
Main Authors: Zschocke, J, Graham, C A, Carson, D J, Nevin, N C
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801432/
https://ncbi.nlm.nih.gov/pubmed/8533759
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