[Molecular diagnosis and therapeutic measures in patients with dyskeratosis congenita].

Abstract excerpt

Dyskeratosis congenita is a rare genetically heterogeneous disorder characterized by bone marrow failure and premature ageing. Current knowledge on clinical manifestations, molecular pathomechanisms, diagnostic criteria and therapeutic possibilities of patients with dyskeratosis congenita are described. Mutation analysis of the gene encoding for dyskerin revealed the c.IVS2-5C>G splice site mutation. The...

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