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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.
Berhe, Simon; Heeney, Matthew M; Campagna, Dean R; Thompson, John F; White, Eric J; Ross, Tristen; Peake, Roy W A; Hanrahan, Jeffery D; Rodriguez, Vilmarie; Renaud, Deborah L; Patnaik, Mrinal S; Chang, Eugenia; Bottomley, Sylvia S; Fleming, Mark D.
Afiliação
  • Berhe S; Department of Pathology, Boston Children's Hospital, MA.
  • Heeney MM; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, MA.
  • Campagna DR; Department of Pathology, Boston Children's Hospital, MA.
  • Thompson JF; Claritas Genomics, Cambridge, MA.
  • White EJ; Claritas Genomics, Cambridge, MA.
  • Ross T; Claritas Genomics, Cambridge, MA.
  • Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, MA.
  • Hanrahan JD; Driscoll Children's Hospital, Corpus Christi, TX.
  • Rodriguez V; Department of Pediatrics.
  • Renaud DL; Department of Pediatrics.
  • Patnaik MS; Department of Neurology.
  • Chang E; Department of Medicine Mayo Clinic, Rochester, MN.
  • Bottomley SS; St. Luke's Health System, Boise, ID.
  • Fleming MD; Department of Medicine, University of Oklahoma College of Medicine, OK, USA.
Haematologica ; 103(12): e561-e563, 2018 12.
Article em En | MEDLINE | ID: mdl-30006447
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Mutação de Sentido Incorreto / ATPases Mitocondriais Próton-Translocadoras / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Mutação de Sentido Incorreto / ATPases Mitocondriais Próton-Translocadoras / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article