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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Byrne, Alicia B; Arts, Peer; Polyak, Steven W; Feng, Jinghua; Schreiber, Andreas W; Kassahn, Karin S; Hahn, Christopher N; Mordaunt, Dylan A; Fletcher, Janice M; Lipsett, Jillian; Bratkovic, Drago; Booker, Grant W; Smith, Nicholas J; Scott, Hamish S.
Afiliação
  • Byrne AB; 1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
  • Arts P; 2School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
  • Polyak SW; 1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
  • Feng J; 2School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
  • Schreiber AW; 3School of Biological Sciences, University of Adelaide, Adelaide, SA Australia.
  • Kassahn KS; 2School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
  • Hahn CN; 4ACRF Cancer Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
  • Mordaunt DA; 2School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
  • Fletcher JM; 3School of Biological Sciences, University of Adelaide, Adelaide, SA Australia.
  • Lipsett J; 4ACRF Cancer Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
  • Bratkovic D; 3School of Biological Sciences, University of Adelaide, Adelaide, SA Australia.
  • Booker GW; 5Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA Australia.
  • Smith NJ; 1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.
  • Scott HS; 2School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
NPJ Genom Med ; 4: 28, 2019.
Article em En | MEDLINE | ID: mdl-31754459

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido