title: When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.
authors.affiliation: INSERM UMR1163 Laboratory of Genome Dynamics in the Immune System (DGSI), Paris, France Paris Descartes University-Sorbonne Paris Cité Imagine Institute, Paris, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: de Villartay
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D055261:Immunogenetic Phenomena; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology*; D009154:Mutation
chemical_list: D004268:DNA-Binding Proteins; C101467:XRCC4 protein, human