This study, the first in Portuguese patients, confirms the frequent occurrence of the A3243G mutation in patients with mitochondrial diseases, and emphasises the usefulness of genetic testing in reaching a correct diagnosis.

The mitochondrial DNA A3243G mutation in Portugal:clinical and molecular studies in 5 families.

COSTA, ALFREDO;
1999-01-01

Abstract

This study, the first in Portuguese patients, confirms the frequent occurrence of the A3243G mutation in patients with mitochondrial diseases, and emphasises the usefulness of genetic testing in reaching a correct diagnosis.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1693
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 21
  • ???jsp.display-item.citation.isi??? 17
social impact