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Titolo:
MELAS ASSOCIATED WITH A MUTATION IN THE VALINE TRANSFER-RNA GENE OF MITOCHONDRIAL-DNA
Autore:
TAYLOR RW; CHINNERY PF; HALDANE F; MORRIS AAM; BINDOFF LA; WILSON J; TURNBULL DM;
Indirizzi:
SCH MED,DEPT NEUROL,FRAMLINGTON PL NEWCASTLE TYNE NE2 4HH TYNE & WEARENGLAND SCH MED,DEPT NEUROL NEWCASTLE TYNE NE2 4HH TYNE & WEAR ENGLAND GREAT ORMOND ST HOSP SICK CHILDREN LONDON ENGLAND
Titolo Testata:
Annals of neurology
fascicolo: 3, volume: 40, anno: 1996,
pagine: 459 - 462
SICI:
0364-5134(1996)40:3<459:MAWAMI>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFER RNA(LEU(UUR)) GENE; TRANSFER RNALEU(UUR); LACTIC-ACIDOSIS; POINT MUTATION; EPISODES MELAS; MYOPATHY; ENCEPHALOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
R.W. Taylor et al., "MELAS ASSOCIATED WITH A MUTATION IN THE VALINE TRANSFER-RNA GENE OF MITOCHONDRIAL-DNA", Annals of neurology, 40(3), 1996, pp. 459-462

Abstract

We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 06:31:09