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Accession IconSRP133497

Gain-of-function mutations in DNMT3A in patients with paraganglioma

Organism Icon Homo sapiens
Sample Icon 3 Downloadable Samples
Technology Badge IconIllumina HiSeq 2500

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Description
Pheochromocytomas/paragangliomas are the most heritable of all tumors. However, there are still cases that are not explained by mutations in the known genes. We aimed to identify the genetic cause of disease in a patient strongly suspected of having hereditary tumors. We identified a novel de novo mutation in DNMT3A, affecting a highly conserved residue. Among other results from other techniques, a different global expression profile was observed in the patient carrying the mutated DNMT3A compared to controls (parents) by RNA-seq
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