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A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
Oakley, Jamie Heather; Campagna, Dean R; Sun, Liang; Rockowitz, Shira; Sliz, Piotr; Boudreaux, Jeanne; Woods, Gary; Fleming, Mark D.
Afiliação
  • Oakley JH; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
  • Campagna DR; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Sun L; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rockowitz S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Boudreaux J; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
  • Woods G; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
  • Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Pediatr Blood Cancer ; 69(1): e29309, 2022 01.
Article em En | MEDLINE | ID: mdl-34411431
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Genéticas Ligadas ao Cromossomo X / 5-Aminolevulinato Sintetase / Anemia Sideroblástica Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Genéticas Ligadas ao Cromossomo X / 5-Aminolevulinato Sintetase / Anemia Sideroblástica Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article