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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'.
Bhuva, Meha; Sen, Sambit; Elsey, Terence; Atoyebi, Wale; Dreau, Helene; Bradbury, Charlotte; Johnston, Rosalynd; Bignell, Patricia; Griffiths, William.
Affiliation
  • Bhuva M; Department of Gastroenterology and Hepatology, Luton and Dunstable University Hospital, Luton, UK.
  • Sen S; Department of Gastroenterology and Hepatology, Luton and Dunstable University Hospital, Luton, UK.
  • Elsey T; Department of Molecular Genetics, Cambridge University Hospitals, Cambridge, UK.
  • Atoyebi W; Medical Genetics Laboratories, Oxford University Hospitals, Oxford, UK.
  • Dreau H; Cancer and Haematology Centre, Churchill Hospital, Oxford, UK.
  • Bradbury C; Department of Haematology, Bristol Royal Infirmary, Bristol, UK.
  • Johnston R; Department of Haematology, Royal Sussex County Hospital, Brighton, UK.
  • Bignell P; Haemato-Oncology Services, Haematology Department, Oxford University Hospitals, Oxford, UK.
  • Griffiths W; Cambridge Liver Unit, Cambridge University Hospitals, Cambridge, UK.
Br J Haematol ; 184(6): 1037-1040, 2019 03.
Article in En | MEDLINE | ID: mdl-29797321
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apoferritins / Exons / Iron Metabolism Disorders Limits: Humans Language: En Journal: Br J Haematol Year: 2019 Document type: Article Affiliation country: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apoferritins / Exons / Iron Metabolism Disorders Limits: Humans Language: En Journal: Br J Haematol Year: 2019 Document type: Article Affiliation country: United kingdom