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Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'.

Meha BhuvaSambit SenTerence ElseyWale AtoyebiHelene DreauCharlotte BradburyRosalynd JohnstonPatricia BignellWilliam J H Griffiths
Published in: British journal of haematology (2018)
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • single cell
  • genome wide identification
  • amino acid
  • transcription factor
  • iron deficiency