| http://purl.uniprot.org/citations/11385716 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11385716 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11385716 | http://www.w3.org/2000/01/rdf-schema#comment | "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 from dry blood spots. Thirty-six different mutations, including 25 missense mutations, six splice mutations, three deletions and two nonsense mutations were detected in 75 of the 80 mutant alleles (94%). The prevalent mutations were R408W (19%), V388M and IVS10nt-11g->a (6% each), Y414C (5%) and H170D, A403V, T380M and IVS7nt1g->a (4% each). Two novel missense mutations were identified in exon 5 (H170D and N167S). There was genotype/phenotype correlation in 33/40 cases (83%). For this population, exons 12, 11, 7, 5 and 8, which carry 78% of the mutations, would have to be screened first. However, the other exons must be studied when either one or no mutations are found in the primary screening. Hum Mutat 17:523, 2001."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1141.abs"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1141"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Yang Y."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Yang Y."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Drummond-Borg M."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Drummond-Borg M."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Garcia-Heras J."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/author | "Garcia-Heras J."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/pages | "523"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/pages | "523"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/title | "Molecular analysis of phenylketonuria (PKU) in newborns from Texas."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/title | "Molecular analysis of phenylketonuria (PKU) in newborns from Texas."xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/11385716 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11385716 |
| http://purl.uniprot.org/citations/11385716 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11385716 |
| http://purl.uniprot.org/citations/11385716 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11385716 |
| http://purl.uniprot.org/citations/11385716 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11385716 |