Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Haematologica. 2018 Dec;103(12):e561-e563. doi: 10.3324/haematol.2018.199109. Epub 2018 Jul 13.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Sideroblastic / genetics*
  • Anemia, Sideroblastic / metabolism
  • Anemia, Sideroblastic / pathology
  • Child
  • DNA Mutational Analysis / methods
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / metabolism
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Infant
  • Male
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mitochondrial Proton-Translocating ATPases / metabolism
  • Mutation, Missense*
  • Point Mutation
  • Recurrence
  • Syndrome

Substances

  • DNA, Mitochondrial
  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases

Supplementary concepts

  • X-linked sideroblastic anemia