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Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Burhan BaltaMurat ErdoğanAslıhan KirazSerdal KorkmazAlperen Ağadayı
Published in: Turkish journal of haematology : official journal of Turkish Society of Haematology (2018)
In the Turkish population, the prevalence of HFCS is about 1/100,000 and the commonly observed mutation is c.-160A>G mutation.
Keyphrases
  • genome wide
  • transcription factor
  • genome wide identification