Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

✍ Scribed by 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

• Book ID: 121277043
• Publisher: Nature Publishing Group
• Year: 2013
• Tongue: English
• Weight: 600 KB
• Volume: 22
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2013.175