title: May a missense mutation be more deleterious than a truncating mutation?
authors: Department of Biology, University Roma Tre, Roma, Italy. dimasi@uniroma3.it
authors: Alessandra
authors: A
authors: di Masi
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000502:physiology*; D049932:Nijmegen Breakage Syndrome / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases