Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model (Articolo in rivista)

Type

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

Label

• Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model (Articolo in rivista) (literal)

Anno

• 1995-01-01T00:00:00+01:00 (literal)

Alternative label

• Giannattasio S, Bisceglia L, Lattanzio P, Grifa A, Dianzani I, Gasparini P, Marra E. (1995)
  Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model
  in Molecular and cellular probes (Print)
  (literal)

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

• Giannattasio S, Bisceglia L, Lattanzio P, Grifa A, Dianzani I, Gasparini P, Marra E. (literal)

Pagina inizio

• 201 (literal)

Pagina fine

• 205 (literal)

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• 9 (literal)

Rivista

• Molecular and cellular probes (Rivista)

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

• 5 (literal)

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

• 3 (literal)

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

• CNR, Centro di Studio sui Mitocondri e Metabolismo Energetico, 70126 Bari and 70059 Trani (BA), Italy Servizio di Genetica Medica, IRCCS-Ospedale \"CSS\" 71013 San Giovanni Rotondo (FG), Italy Istituto di Clinica Pediatrica, Università di Torino, 11126 Torino, Italy (literal)

Titolo

• Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model (literal)

Abstract

• RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one T7 promoter-containing primer. Amplification products are subsequently transcribed in vitro and the labelled transcripts are analysed for single-strand conformation changes. rSSCP has been applied to mutation screening of the phenylalanine hydroxylase gene and rBAT cDNA, from PKU and cystinuric patients, respectively. Experimental evidence shows that 83% and 86% of screened PKU and cystinuric mutations, respectively, give rise to detectable rSSCP signals. Thus, results obtained show that RNA single-strand conformation polymorphism analysis is generally applicable and is a suitable technique for detecting genetic disease causing mutations, both in basic research and in clinical practice. (literal)

Prodotto di

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

Autore CNR

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

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)
• ERSILIA MARRA (Unità di personale esterno)

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

• Molecular and cellular probes (Rivista)