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Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.

AuthorsA Balas, M J Aviles, F Garcia-Sanchez, J L Vicario
JournalBlood (Blood) Vol. 93 Issue 11 Pg. 4020-1 (Jun 01 1999) ISSN: 0006-4971 [Print] United States
PMID10383191 (Publication Type: Comment, Letter)
Chemical References
  • Ferritins
  • Apoferritins
Topics
  • Adult
  • Aged
  • Apoferritins
  • Cataract (blood, complications, genetics)
  • Child
  • Child, Preschool
  • Female
  • Ferritins (blood, genetics)
  • Humans
  • Infant
  • Iron Metabolism Disorders (blood, complications, genetics)
  • Male
  • Pedigree
  • Point Mutation
  • Syndrome

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