Article
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Human mutation - 1 Mar 2016
Gatz Susanne A, Salles Daniela, Jacobsen Eva-Maria, Dörk Thilo, Rausch Tobias, Aydin Sevtap, Surowy Harald, Volcic Meta, Vogel Walther, Debatin Klaus-Michael, Stütz Adrian M, Schwarz Klaus, Pannicke Ulrich, Hess Timo, Korbel Jan O, Schulz Ansgar S, Schumacher Johannes, Wiesmüller Lisa
Abstract excerpt
Immunodeficiency patients with DNA repair defects exhibit radiosensitivity and proneness to leukemia/lymphoma formation. Though progress has been made in identifying the underlying mutations, in most patients the genetic basis is unknown. Two de novo mutated candidate genes, MCM3AP encoding germinal center-associated nuclear protein (GANP) and POMP encoding proteasome maturation protein (POMP), were identified by...
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