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Modern diagnosis and management of the porphyrias

4 Sept 2006

Abstract excerpt

Recent advances in the molecular understanding of the porphyrias now offer specific diagnosis and precise definition of the types of genetic mutations involved in the disease. Molecular diagnostic testing is powerful and very useful in kindred evaluation and genetic counselling when a disease-responsible mutation has been identified in the family. It is also the only way to properly screen asymptomatic gene...

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PMID: 16956347
DOI: 10.1111/j.1365-2141.2006.06289.x

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