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Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.
Kieke, Michele C; Klemm, Jacob; Tondin, Arthur Rech; Alencar, Victor; Johnson, Nathan; Driver, Ashley M; Lentz, Thomas; Fischer, Gregory J; Caporale, Diane A; Drury, Luke J.
Afiliação
  • Kieke MC; Regions Hospital, Medical Laboratory and Pathology Services, Saint Paul, MN, USA.
  • Klemm J; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Tondin AR; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Alencar V; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Johnson N; PreventionGenetics, Marshfield, WI, USA.
  • Driver AM; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Lentz T; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Fischer GJ; PreventionGenetics, Marshfield, WI, USA.
  • Caporale DA; University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
  • Drury LJ; PreventionGenetics, Marshfield, WI, USA.
Mol Genet Metab Rep ; 20: 100481, 2019 Sep.
Article em En | MEDLINE | ID: mdl-31304091

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos