Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

  • Andrea E. Ament
  • , Zhongyuan Li
  • , Amy C. Sturm
  • , James D. Perko
  • , Sarah Lawson
  • , Margaret Masterson
  • , Edward V. Quadros
  • , Stephan M. Tanner

Research output: Contribution to journalLetterpeer-review

19 Scopus citations
Original languageEnglish (US)
Pages (from-to)622-624
Number of pages3
JournalBritish Journal of Haematology
Volume144
Issue number4
DOIs
StatePublished - Feb 2009

All Science Journal Classification (ASJC) codes

  • Hematology

Keywords

  • African ethnicity
  • Cobalamin (vitamin B)
  • Founder mutation
  • Juvenile cobalamin deficiency
  • Mutation detection

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