title: Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
authors.affiliation: Assistance Publique-Hôpitaux de Marseille, Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, Marseille, France; UMR_S 910 INSERM-AMU, Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Lacoste
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: I
authors.initials: I
authors.lastname: Agouti
authors.forename: D
authors.initials: D
authors.lastname: Mowat
authors.forename: F
authors.initials: F
authors.lastname: Giuliano
authors.forename: C
authors.initials: C
authors.lastname: Badens
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004265:DNA Helicases / Q000737:chemistry* / Q000235:genetics*; D005190:Family; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000737:chemistry* / Q000235:genetics*; D010641:Phenotype; D017434:Protein Structure, Tertiary; D016415:Sequence Alignment; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein