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[해외논문] The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder 원문보기

Cell, v.99 no.6, 1999년, pp.577 - 587  

Stewart, G.S. ,  Maser, R.S. ,  Stankovic, T. ,  Bressan, D.A. ,  Kaplan, M.I. ,  Jaspers, N.G. ,  Raams, A. ,  Byrd, P.J. ,  Petrini, J.H. ,  Taylor, A.R.

Abstract AI-Helper 아이콘AI-Helper

We show that hypomorphic mutations in hMRE11, but not in ATM, are present in certain individuals with an ataxia-telangiectasia-like disorder (ATLD). The cellular features resulting from these hMRE11 mutations are similar to those seen in A-T as well as NBS and include hypersensitivity to ionizing ra...

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