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A new mutation of ANO6 in two familial cases of Scott syndrome.
Boisseau, Pierre; Bene, Marie C; Besnard, Thomas; Pachchek, Sinthuja; Giraud, Mathilde; Talarmain, Patricia; Robillard, Nelly; Gourlaouen, Marie A; Bezieau, Stéphane; Fouassier, Marc.
Affiliation
  • Boisseau P; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Bene MC; Service d'Hématologie biologique, CHU de Nantes, Nantes, France.
  • Besnard T; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Pachchek S; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Giraud M; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Talarmain P; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Robillard N; Service d'Hématologie biologique, CHU de Nantes, Nantes, France.
  • Gourlaouen MA; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Bezieau S; Service de Génétique médicale, CHU de Nantes, Nantes, France.
  • Fouassier M; Service d'Hématologie biologique, CHU de Nantes, Nantes, France.
Br J Haematol ; 180(5): 750-752, 2018 03.
Article in En | MEDLINE | ID: mdl-27879994

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Coagulation Disorders / Gene Deletion / Codon, Nonsense / Phospholipid Transfer Proteins / Anoctamins Limits: Female / Humans Language: En Journal: Br J Haematol Year: 2018 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Coagulation Disorders / Gene Deletion / Codon, Nonsense / Phospholipid Transfer Proteins / Anoctamins Limits: Female / Humans Language: En Journal: Br J Haematol Year: 2018 Document type: Article Affiliation country: Country of publication: