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Titolo:
SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS
Autore:
ABAD MM; COTTER PD; FODOR FH; LARSON S; GINSBERGFELLNER F; DESNICK RJ; ABDENUR JE;
Indirizzi:
CUNY MT SINAI SCH MED,DEPT HUMAN GENET,BOX 1498 NEW YORK NY 10029 CUNY MT SINAI SCH MED,DEPT HUMAN GENET NEW YORK NY 10029 CUNY MT SINAI SCH MED,DEPT PEDIAT NEW YORK NY 10029
Titolo Testata:
Metabolism, clinical and experimental
fascicolo: 4, volume: 46, anno: 1997,
pagine: 445 - 449
SICI:
0026-0495(1997)46:4<445:SFTMAM>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
POINT MUTATION; TRNA(LEU(UUR)) GENE; IDENTICAL-TWINS; LACTIC-ACIDOSIS; EPISODES MELAS; DEAFNESS; ENCEPHALOMYOPATHY; PREVALENCE; QUANTIFICATION; FAMILIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
39
Recensione:
Indirizzi per estratti:
Citazione:
M.M. Abad et al., "SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS", Metabolism, clinical and experimental, 46(4), 1997, pp. 445-449

Abstract

Since recent studies demonstrated the occurrence of the mitochondrialDNA (mtDNA) mutation A3243G in patients with adult-onset diabetes, aninvestigation was undertaken to determine the frequency of this mutation in a pediatric population with insulin-dependent diabetes mellitus(IDDM), DNA was extracted from peripheral blood of 270 pediatric patients with IDDM, The presence of the mtDNA A3243G mutation was screenedfor by minisequencing ana mutation-specific Apal endonuclease restriction after polymerase chain reaction (PCR) amplification of mtDNA. TheA3243G mtDNA mutation was not found in any IDDM patients examined, This mutation is uncommon in children with IDDM from various ethnic and racial groups, Therefore, the contribution of the mutation to the pathogenesis of IDDM, if any, is minimal. Copyright (C) 1997 by W.B. Saunders Company.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 18:09:28