title: A new mutation of ANO6 in two familial cases of Scott syndrome.
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisseau
authors.affiliation: Service d'Hématologie biologique, CHU de Nantes, Nantes, France.
authors.forename: Marie C
authors.initials: MC
authors.lastname: Bene
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Besnard
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Sinthuja
authors.initials: S
authors.lastname: Pachchek
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Giraud
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Patricia
authors.initials: P
authors.lastname: Talarmain
authors.affiliation: Service d'Hématologie biologique, CHU de Nantes, Nantes, France.
authors.forename: Nelly
authors.initials: N
authors.lastname: Robillard
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Marie A
authors.initials: MA
authors.lastname: Gourlaouen
authors.affiliation: Service de Génétique médicale, CHU de Nantes, Nantes, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bezieau
authors.affiliation: Service d'Hématologie biologique, CHU de Nantes, Nantes, France.|Centre de Traitement de l'Hémophilie, CHU de Nantes, Nantes, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Fouassier
mesh_terms: D000075368:Anoctamins / Q000235:genetics*; D001778:Blood Coagulation Disorders / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D049294:Phospholipid Transfer Proteins / Q000235:genetics*
chemical_list: C555078:ANO6 protein, human; D000075368:Anoctamins; D018389:Codon, Nonsense; D049294:Phospholipid Transfer Proteins
keywords: ANO6; Anoctamin 6; Scott syndrome; inherited platelet disorder; scramblase