Article
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Human mutation - 1 Jun 2001
Yang Y, Drummond-Borg M, Garcia-Heras J
Abstract excerpt
This study describes the mutations at the phenylalanine hydroxylase (PAH) locus in patients with the diagnosis of classic PKU (n=18), hyperphenylalaninemia (HPA) variant (n=9) and benign persistent hyperphenylalaninemia (HPA) (n=13) who were identified by the Texas Newborn Screening Program. Blinded studies were done by sequencing of the 13 exons and exon-intron boundaries of the PAH gene in genomic DNA isolated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.