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The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region

  • Chanika Phornphutkul
  • , Yair Anikster
  • , Marjan Huizing
  • , Paula Braun
  • , Chaya Brodie
  • , Janice Y. Chou
  • , William A. Gahl
  • National Institutes of Health

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43 Scopus citations

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Biochemistry, Genetics and Molecular Biology