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:
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