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Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
Nielsen, Marlene L; Lildballe, Dorte L; Rasmussen, Maria; Bojesen, Anders; Birn, Henrik; Sunde, Lone.
Afiliação
  • Nielsen ML; Department of Biomedicine, Aarhus University, Wilhelm Meyers Allé 3, 8000, Aarhus C, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, 8200, Aarhus N, Denmark. Electronic address: marlene.n@biomed.au.dk.
  • Lildballe DL; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Beriderbakken 4, 7100, Vejle, Denmark.
  • Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Beriderbakken 4, 7100, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Winloewsparken 19, 3, 5000, Odense C, Denmark.
  • Bojesen A; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, 8200, Aarhus N, Denmark.
  • Birn H; Department of Biomedicine, Aarhus University, Wilhelm Meyers Allé 3, 8000, Aarhus C, Denmark; Department of Nephrology, Aarhus University Hospital, Palle Juul Jensens Boulevard 99, 8200, Aarhus N, Denmark.
  • Sunde L; Department of Biomedicine, Aarhus University, Wilhelm Meyers Allé 3, 8000, Aarhus C, Denmark; Department of Clinical Genetics, Aalborg University Hospital, Ladegaardsgade 5, 9000, Aalborg C, Denmark.
Eur J Med Genet ; 64(4): 104183, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33639313
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Dominante / Frequência do Gene Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Dominante / Frequência do Gene Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article