@prefix prodottidellaricerca: . @prefix istituto: . @prefix prodotto: . istituto:CDS015 prodottidellaricerca:prodotto prodotto:ID12707 . @prefix pubblicazioni: . @prefix unitaDiPersonaleInterno: . unitaDiPersonaleInterno:MATRICOLA33008 pubblicazioni:autoreCNRDi prodotto:ID12707 . unitaDiPersonaleInterno:MATRICOLA12143 pubblicazioni:autoreCNRDi prodotto:ID12707 . @prefix rdf: . @prefix retescientifica: . prodotto:ID12707 rdf:type retescientifica:ProdottoDellaRicerca , prodotto:TIPO1101 . @prefix rdfs: . prodotto:ID12707 rdfs:label "The molecular basis of phenylketonuria in Lithuania. (Articolo in rivista)"@en . @prefix xsd: . prodotto:ID12707 pubblicazioni:anno "2003-01-01T00:00:00+01:00"^^xsd:gYear . @prefix skos: . prodotto:ID12707 skos:altLabel "
Kasnauskiene J., Giannattasio S., Lattanzio P., Cimbalistiene L., Ku\u00E8inskas V. (2003)
The molecular basis of phenylketonuria in Lithuania.
in Human mutation
"^^rdf:HTML ; pubblicazioni:autori "Kasnauskiene J., Giannattasio S., Lattanzio P., Cimbalistiene L., Ku\u00E8inskas V."^^xsd:string ; pubblicazioni:paginaInizio "398"^^xsd:string ; pubblicazioni:paginaFine "403"^^xsd:string ; pubblicazioni:numeroVolume "21"^^xsd:string . @prefix ns10: . prodotto:ID12707 pubblicazioni:rivista ns10:ID254267 ; skos:note "ISI Web of Science (WOS)"^^xsd:string ; pubblicazioni:affiliazioni "IBBE, CNR, Bari, Italy. Dept. of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania."^^xsd:string ; pubblicazioni:titolo "The molecular basis of phenylketonuria in Lithuania."^^xsd:string ; prodottidellaricerca:abstract "We report the spectrum of the PAH gene mutations in patients with phenylketonuria residing in Lithuania. A total of 184 independent chromosomes were investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosomes were analysed by scanning the whole coding sequence of PAH gene by multiplex \u0091broad range\u0092 denaturing gradient gel electrophoresis. Mutations were identified by fluorescent automated sequencing or by restriction enzyme digestion analysis if an abnormal DGGE pattern was recognised. 21 different mutations were identified for 176 PKU chromosomes, with a mutation detection rate of 96%. The most common ones were R408W (73.5% chromosomes) and R158Q (7.0% chromosomes) whereas the remaining mutations appeared to be rare (relative frequencies 0.5%-2%). The high mutation detection rate obtained is an evidence of the efficiency of PAH genetic testing achieved in Lithuania. Moreover, the definition of the PKU mutation profile in the Lithuanian population will allow to perform a genotype-phenotype correlation study thus making feasible genotyped-based prediction of the biochemical phenotype in newborns with hyperphenylalninemia. This may be useful for refining diagnosis and anticipating dietary requirements." ; prodottidellaricerca:prodottoDi istituto:CDS015 ; pubblicazioni:autoreCNR unitaDiPersonaleInterno:MATRICOLA12143 , unitaDiPersonaleInterno:MATRICOLA33008 . ns10:ID254267 pubblicazioni:rivistaDi prodotto:ID12707 .