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Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
Bogardus, Hannah; Schulz, Vincent P; Maksimova, Yelena; Miller, Barbara A; Li, Peining; Forget, Bernard G; Gallagher, Patrick G.
Afiliação
  • Bogardus H; Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • Schulz VP; Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • Maksimova Y; Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
  • Miller BA; Departments of Pediatrics and Biochemistry and Molecular Biology, Penn State University College of Medicine, Hershey, PA.
  • Li P; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Forget BG; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
  • Gallagher PG; Department of Pediatrics, Yale University School of Medicine, New Haven, CT Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA Department of Pathology, Yale University School of Medicine, New Haven, CT, USA patrick.gallagher@yale.edu.
Haematologica ; 99(9): e168-70, 2014 Sep.
Article em En | MEDLINE | ID: mdl-24895341

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esferocitose Hereditária / Cromossomos Humanos Par 1 / Espectrina / Anquirinas / Dissomia Uniparental / Mutação Limite: Female / Humans / Male Idioma: En Revista: Haematologica Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esferocitose Hereditária / Cromossomos Humanos Par 1 / Espectrina / Anquirinas / Dissomia Uniparental / Mutação Limite: Female / Humans / Male Idioma: En Revista: Haematologica Ano de publicação: 2014 Tipo de documento: Article