Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria

  • Manisha Balwani
  • , Dana Doheny
  • , David F. Bishop
  • , Irina Nazarenko
  • , Makiko Yasuda
  • , Harry A. Dailey
  • , Karl E. Anderson
  • , D. Montgomery Bissell
  • , Joseph Bloomer
  • , Herbert L. Bonkovsky
  • , John D. Phillips
  • , Lawrence Liu
  • , Robert J. Desnick

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology