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Showing 1 to 2 of 2 for “"Nijmegen breakage syndrome (NBS)"”.
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Distinct DNA Damage Signaling in the Brain Distinguishes ATLD, NBS, and ATR-Seckel Syndrome
… system. Hypomorphic mutations in the Mre11/Rad50/NBS1 complex (MRN complex), which is required for efficient ATM activity, result in distinct syndromes. Ataxia-telangiectasia-like disease (ATLD) results from truncating mutations in Mre11 and presents with neurodegeneration similar to that observed …
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Caretaker-Gen-Syndrome
… (gt und ag) zurückführen sind. Nijmegen Breakage Syndrom (NBS): Suche nach Genen, die einen NBS-ähnlichen Phänotyp auslösen. Über 90 Prozent aller NBS-Patienten tragen Mutationen im NBS1-Gen, dessen Translationsprodukt im Komplex mit MRE11 und RAD50 eine zentrale Rolle in …