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Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
Blumenstiel, Brendan; DeFelice, Matthew; Birsoy, Ozge; Bleyer, Anthony J; Kmoch, Stanislav; Carter, Todd A; Gnirke, Andreas; Kidd, Kendrah; Rehm, Heidi L; Ronco, Lucienne; Lander, Eric S; Gabriel, Stacey; Lennon, Niall J.
Afiliação
  • Blumenstiel B; Broad Institute of MIT and Harvard, Cambridge, Massachusetts. Electronic address: brendan@broadinstitute.org.
  • DeFelice M; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Birsoy O; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Partners Healthcare Laboratory for Molecular Medicine, Cambridge, Massachusetts.
  • Bleyer AJ; Nephrology Section, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
  • Kmoch S; Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.
  • Carter TA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Gnirke A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Kidd K; Nephrology Section, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
  • Rehm HL; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Partners Healthcare Laboratory for Molecular Medicine, Cambridge, Massachusetts.
  • Ronco L; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Lander ES; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Gabriel S; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Lennon NJ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
J Mol Diagn ; 18(4): 566-71, 2016 07.
Article em En | MEDLINE | ID: mdl-27157321

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espectrometria de Massas / Rim Policístico Autossômico Dominante / Mucina-1 / Técnicas de Diagnóstico Molecular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espectrometria de Massas / Rim Policístico Autossômico Dominante / Mucina-1 / Técnicas de Diagnóstico Molecular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article