[Procedure to identify gene abnormalities responsible for genetically inherited disease such as porphyrias].

Abstract excerpt

Some genetically inherited diseases such as mitochondrial encephalomyopathies are caused by the very few mutations in the mitochondrial gene, but the diseases such as porphyrias are caused by many different mutations in the gene responsible for the disease. So, determining the genetical status of each individuals belonging to a family suffering from the diseases requires the detection of the gene mutation in the...

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