A novel X-linked gene, G4.5. is responsible for Barth syndrome. (Articolo in rivista)

Type

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

Label

• A novel X-linked gene, G4.5. is responsible for Barth syndrome. (Articolo in rivista) (literal)

Anno

• 1996-01-01T00:00:00+01:00 (literal)

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

• 10.1038/ng0496-385 (literal)

Alternative label

• Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. (1996)
  A novel X-linked gene, G4.5. is responsible for Barth syndrome.
  in Nature genetics (Print); Nature Publishing Group, New York (Stati Uniti d'America)
  (literal)

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

• Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. (literal)

Pagina inizio

• 385 (literal)

Pagina fine

• 389 (literal)

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

• http://www.nature.com/ng/journal/v12/n4/abs/ng0496-385.html (literal)

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

• 12 (literal)

Rivista

• Nature genetics (Rivista)

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

• 5 (literal)

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

• 4 (literal)

Note

• PubMe (literal)
• ISI Web of Science (WOS) (literal)
• Scopu (literal)

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

• Institute of Genetics, Biochemistry and Evolution-CNR, 27100 Pavia, Italy; Dept. of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide SA5006, Australia.; Academic Medical Centre, Laboratory of Neurology, 1105 AZ Amsterdam, The Nederlands. (literal)

Titolo

• A novel X-linked gene, G4.5. is responsible for Barth syndrome. (literal)

Abstract

• Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28. We now report the identification of unique mutations in one of the genes in this region, termed G4.5, expressed at high level in cardiac and skeletal muscle. Different mRNAs can be produced by alternative splicing of the primary G4.5 transcript, encoding novel proteins that differ at the N terminus and in the central region. The mutations introduce stop codons in the open reading frame interrupting translation of most of the putative proteins (which we term 'tafazzins'). Our results suggest that G4.5 is the genetic locus responsible for the Barth syndrome. (literal)

Editore

• Nature Publishing Group (Editore)

Prodotto di

• Biologia Computazionale (ME.P07.005.001) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "A novel X-linked gene, G4.5. is responsible for Barth syndrome." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Biologia Computazionale (ME.P07.005.001) (Modulo)

Autore CNR di

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

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

• Nature genetics (Rivista)

Editore di

• Nature Publishing Group (Editore)

Insieme di parole chiave di

• Parole chiave di "A novel X-linked gene, G4.5. is responsible for Barth syndrome." (Insieme di parole chiave)