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Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs, Daniel M; Vossen, Rolf H A M; Liem, Michael; Buermans, Henk P J; Dauwerse, Hans; van Heusden, Dave; Gansevoort, Ron T; den Dunnen, Johan T; Janssen, Bart; Peters, Dorien J M; Losekoot, Monique; Anvar, Seyed Yahya.
Afiliação
  • Borràs DM; GenomeScan B.V, Leiden, The Netherlands.
  • Vossen RHAM; Institut National de la Santé et de la Recherche Médicale (INSERM), Institut of Cardiovascular and Metabolic Disease, Toulouse, France.
  • Liem M; Université Toulouse III Paul-Sabatier, Toulouse, France.
  • Buermans HPJ; Leiden Genome Technology Center (LGTC), Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • Dauwerse H; Leiden Genome Technology Center (LGTC), Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • van Heusden D; Leiden Genome Technology Center (LGTC), Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • Gansevoort RT; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • den Dunnen JT; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • Janssen B; Department of Nephrology, University Hospital Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Peters DJM; Leiden Genome Technology Center (LGTC), Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • Losekoot M; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
  • Anvar SY; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
Hum Mutat ; 38(7): 870-879, 2017 07.
Article em En | MEDLINE | ID: mdl-28378423
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cátion TRPP / Doenças Renais Policísticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cátion TRPP / Doenças Renais Policísticas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda