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Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease.

AuthorsMaria Carla Sollaino, Maria Elisabetta Paglietti, Daniela Loi, Rita Congiu, Rosanna Podda, Renzo Galanello
JournalBlood (Blood) Vol. 116 Issue 12 Pg. 2193-4 (Sep 23 2010) ISSN: 1528-0020 [Electronic] United States
PMID20864588 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • alpha-Globins
Topics
  • Child
  • Gene Deletion
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Regulatory Elements, Transcriptional (genetics)
  • alpha-Globins (genetics)
  • alpha-Thalassemia (genetics)

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