Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
European journal of human genetics : EJHG - 1 Apr 2014
Trujillano Daniel, Perez Belén, González Justo, Tornador Cristian, Navarrete Rosa, Escaramis Georgia, Ossowski Stephan, Armengol Lluís, Cornejo Verónica, Desviat Lourdes R, Ugarte Magdalena, Estivill Xavier
Abstract excerpt
Genetic diagnostics of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficient hyperphenylalaninemia (BH4DH) rely on methods that scan for known mutations or on laborious molecular tools that use Sanger sequencing. We have implemented a novel and much more efficient strategy based on high-throughput multiplex-targeted resequencing of four genes (PAH, GCH1, PTS, and QDPR) that, when affected by...
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