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Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis.

AuthorsIoanna Lazana, Azim Mohamedali, Frances Smith, Hugues de Lavallade, Donal McLornan, Kavita Raj
JournalBritish journal of haematology (Br J Haematol) Vol. 192 Issue 1 Pg. 220-223 (01 2021) ISSN: 1365-2141 [Electronic] England
PMID33216349 (Publication Type: Case Reports, Letter)
Chemical References
  • Bisphosphoglycerate Mutase
Topics
  • Bisphosphoglycerate Mutase (genetics)
  • Female
  • Humans
  • Loss of Heterozygosity
  • Middle Aged
  • Polycythemia (genetics)
  • Uniparental Disomy (genetics)

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