• Mutation; HGNC; HGNC:7230; MRE11; Simple; p.Arg633Ter (c.1897C>T); ClinVar=VCV000008782; Zygosity=Homozygous (PubMed=10612394).
  

PubMed=10612394; DOI=10.1016/S0092-8674(00)81547-0
Stewart G.S., Maser R.S., Stankovic T., Bressan D.A., Kaplan M.I., Jaspers N.G.J., Raams A., Byrd P.J., Petrini J.H.J., Taylor A.M.R.
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
Cell 99:577-587(1999)

PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882
Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S., Cordeiro-Stone M., Kaufmann W.K.
An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage.
Mol. Cell. Biol. 22:8552-8561(2002)

PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029
Riballo E., Kuhne M., Rief N., Doherty A.J., Smith G.C.M., Recio M.-J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A.R., Jeggo P.A., Lobrich M.
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
Mol. Cell 16:715-724(2004)