| http://purl.uniprot.org/citations/24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24941924 | http://www.w3.org/2000/01/rdf-schema#comment | "The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH4 ) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele, mini-haplotype associated, genotype-phenotype correlations and genotype-based prediction of BH4 responsiveness in 48 Mexican patients. The mutational spectrum included 34 variants with c.60+5G>T being the most frequent (20.8%) and linked to haplotype 4.3 possibly because of a founder effect and/or genetic drift. Two new variants were found c.1A>T and c.969+6T>C. The genotype-phenotype correlation was concordant in 70.8%. The genotype-based prediction to BH4 -responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH4 testing and therapy."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12444"xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Alcantara-Ortigoza M.A."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Gonzalez-del Angel A."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Vela-Amieva M."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Barrientos-Rios R."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Ibarra-Gonzalez I."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Abreu-Gonzalez M."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Fernandez-Lainez C."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Guillen-Lopez S."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/author | "Monroy-Santoyo S."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/pages | "62-67"xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/title | "Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect."xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://purl.uniprot.org/core/volume | "88"xsd:string |
| http://purl.uniprot.org/citations/24941924 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24941924 |
| http://purl.uniprot.org/citations/24941924 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24941924 |
| http://purl.uniprot.org/uniprot/#_B2R8I4-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |
| http://purl.uniprot.org/uniprot/#_B4DPN2-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |
| http://purl.uniprot.org/uniprot/#_Q16021-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |
| http://purl.uniprot.org/uniprot/#_P00439-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |
| http://purl.uniprot.org/uniprot/#_Q16265-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |
| http://purl.uniprot.org/uniprot/#_Q16267-mappedCitation-24941924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24941924 |