[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].

Abstract excerpt

OBJECTIVE: To establish a hyperphenylalaninemia related genes screening method using Ion Torrent Personal Genome Machine (PGM) for early detection and differential diagnosis of hyperphenylalaninemia (HPA). METHODS: Three children with known HPA mutations and a healthy control were used for setting up the method. Ten children with HPA with known mutations were recruited for validating the method. Ion Ampliseq PCR...

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