Science and Research

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

  • Muckenthaler, L.
  • Marques, O.
  • Colucci, S.
  • Kunz, J.
  • Fabrowski, P.
  • Bast, T.
  • Altamura, S.
  • Höchsmann, B.
  • Schrezenmeier, H.
  • Langlotz, M.
  • Richter-Pechanska, P.
  • Rausch, T.
  • Hofmeister-Mielke, N.
  • Gunkel, N.
  • Hentze, M. W.
  • Kulozik, A. E.
  • Muckenthaler, M. U.

Keywords

  • Adolescent
  • Child
  • Hemochromatosis/*genetics/metabolism
  • Humans
  • Male
  • Membrane Proteins/*genetics/metabolism
  • *Mutation
  • Nervous System Diseases/*genetics/metabolism
Publication details
DOI: 10.1182/blood.2021013519
Journal: Blood
Pages: 1418-1422 
Number: 9
Work Type: Original
Location: TLRC
Disease Area: General Lung and Other
Partner / Member: DKFZ, EMBL
Access-Number: 34875027

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