Your browser doesn't support javascript.
loading
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow, Diane B; Zornio, Patricia A; Dries, Annika; Kohler, Jennefer; Fernandez, Liliana; Waggott, Daryl; Walkiewicz, Magdalena; Eng, Christine M; Manning, Melanie A; Farrelly, Ellyn; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T.
Afiliação
  • Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
  • Zornio PA; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Dries A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
  • Kohler J; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Fernandez L; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
  • Waggott D; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Walkiewicz M; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
  • Eng CM; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Manning MA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
  • Farrelly E; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Fisher PG; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
  • Ashley EA; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
  • Bernstein JA; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
  • Wheeler MT; Department of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.
Cold Spring Harb Mol Case Stud ; 3(1): a001388, 2017 Jan.
Article em En | MEDLINE | ID: mdl-28050602

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos