The molecular basis of phenylketonuria in Latvia. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• The molecular basis of phenylketonuria in Latvia. (Articolo in rivista) (literal)

Anno

• 2003-01-01T00:00:00+01:00 (literal)

Alternative label

• Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A. (2003)
  The molecular basis of phenylketonuria in Latvia.
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A. (literal)

Pagina inizio

• 398 (literal)

Pagina fine

• 402 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 21 (literal)

Rivista

• Human mutation (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• IBBE, CNR, Bari, Italy; State Medical Genetics Centre, State Children Hospital Gailezers, Riga, Latvia. (literal)

Titolo

• The molecular basis of phenylketonuria in Latvia. (literal)

Abstract

• Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q, G272X, IVS10-11G>A and R408W mutations were first screened for by PCR or restriction generating PCR amplification of PAH gene exons 5, 7, 11 and 12 followed by digestion with the appropriate diagnostic enzyme. Subsequently 'broad range' denaturing gradient gel electrophoresis analysis of the 13 PAH gene exons has been used to study uncharacterized PKU chromosomes. A mutation detection rate of 98% was achieved. 12 different mutations were found, with the most frequent mutation, R408W, accounting for 76% of Latvian PKU alleles. Six mutations (R408W, E280K, R158Q, A104D, R261Q and P281L) represent 92% of PKU chromosomes. PAH VNTR and STR alleles have been also identified and minihaplotype associations with PKU mutations were also determined. (literal)

Prodotto di

• Interrelazione nucleo/citoplasma/mitocondri nell'omeostasi cellulare. (SV.P15.003.001) (Modulo)
• Istituto di biomembrane e bioenergetica (IBBE) (Istituto)

Autore CNR

• PAOLO LATTANZIO (Unità di personale interno)
• SERGIO GIANNATTASIO (Persona)

Insieme di parole chiave

• Parole chiave di "The molecular basis of phenylketonuria in Latvia." (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di biomembrane e bioenergetica (IBBE) (Istituto)
• Interrelazione nucleo/citoplasma/mitocondri nell'omeostasi cellulare. (SV.P15.003.001) (Modulo)

Autore CNR di

• SERGIO GIANNATTASIO (Persona)
• PAOLO LATTANZIO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Parole chiave di "The molecular basis of phenylketonuria in Latvia." (Insieme di parole chiave)