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Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family.
Dong, Jingyun; Williams, Nori; Cerrone, Marina; Borck, Christopher; Wang, Dawei; Zhou, Bo; Eng, Lucy S; Subbotina, Ekaterina; Um, Sung Yon; Lin, Ying; Ruiter, Kevin; Rojas, Lisa; Coetzee, William A; Sampson, Barbara A; Tang, Yingying.
Afiliação
  • Dong J; Department of Pediatrics, NYU School of Medicine, USA.
  • Williams N; Department of Biochemistry and Molecular Pharmacology, NYU School of Medicine, USA.
  • Cerrone M; Department of Physiology and Neurosciences, NYU School of Medicine, USA.
  • Borck C; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Wang D; Cardiovascular Genetics Program, Leon H Charney Division of Cardiology, NYU School of Medicine, NY, USA.
  • Zhou B; Department of Pathology, New York City Office of Chief Medical Examiner, USA.
  • Eng LS; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Subbotina E; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Um SY; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Lin Y; Department of Pediatrics, NYU School of Medicine, USA.
  • Ruiter K; Department of Biochemistry and Molecular Pharmacology, NYU School of Medicine, USA.
  • Rojas L; Department of Physiology and Neurosciences, NYU School of Medicine, USA.
  • Coetzee WA; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Sampson BA; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
  • Tang Y; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, USA.
Heliyon ; 4(12): e01015, 2018 Dec.
Article em En | MEDLINE | ID: mdl-30582040

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2018 Tipo de documento: Article