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A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.
Çakmakli, Seda; Kaplan, Çigdem; Uzunoglu, Mehmet; Büyükbayram, Merve; Görgülü, Emel; Zarif, Nurten Özkan; Keskin, Ebru Yilmaz.
Afiliación
  • Çakmakli S; Department of Medical Genetics, Necip Fazil City Hospital, Kahramanmaras, Turkey.
  • Kaplan Ç; Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
  • Uzunoglu M; Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
  • Büyükbayram M; Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
  • Görgülü E; Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
  • Zarif NÖ; Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
  • Keskin EY; Division of Pediatric Hematology and Oncology, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey.
Turk J Pediatr ; 62(1): 103-108, 2020.
Article en En | MEDLINE | ID: mdl-32253873

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia Ferropénica / Anemia Hipocrómica Límite: Child / Humans / Male Idioma: En Revista: Turk J Pediatr Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia Ferropénica / Anemia Hipocrómica Límite: Child / Humans / Male Idioma: En Revista: Turk J Pediatr Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía