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Bernard-Soulier syndrome: first human case due to a homozygous deletion of GP9 gene.
Ghalloussi, Dorsaf; Rousset-Rouvière, Caroline; Popovici, Cornel; Garaix, Florentine; Saut, Noémie; Saultier, Paul; Tsimaratos, Michel; Chambost, Hervé; Alessi, Marie-Christine; Baccini, Véronique.
Afiliación
  • Ghalloussi D; UMR 1062 NORT, INSERM, Marseille, France.
  • Rousset-Rouvière C; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.
  • Popovici C; Genetic Department, La Timone, University Hospital of Marseille, Marseille, France.
  • Garaix F; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.
  • Saut N; Hematology Laboratory, La Timone University Hospital of Marseille, Marseille, France.
  • Saultier P; Department of Pediatric Hematology, La Timone Hospital, Marseille, France.
  • Tsimaratos M; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.
  • Chambost H; Department of Pediatric Hematology, La Timone Hospital, Marseille, France.
  • Alessi MC; UMR 1062 NORT, INSERM, Marseille, France.
  • Baccini V; UMR 1062 NORT, INSERM, Marseille, France.
Br J Haematol ; 188(6): e87-e90, 2020 03.
Article en En | MEDLINE | ID: mdl-32030720

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bernard-Soulier Límite: Humans / Male / Newborn Idioma: En Revista: Br J Haematol Año: 2020 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bernard-Soulier Límite: Humans / Male / Newborn Idioma: En Revista: Br J Haematol Año: 2020 Tipo del documento: Article País de afiliación: Francia