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Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
Hertz, Jens Michael; Svenningsen, Per; Dimke, Henrik; Engelund, Morten Buch; Nørgaard, Hanne; Hansen, Anita; Marcussen, Niels; Thiesson, Helle Charlotte; Bergmann, Carsten; Larsen, Martin J.
Afiliação
  • Hertz JM; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark. jens.michael.hertz@rsyd.dk.
  • Svenningsen P; Department of Clinical Research, University of Southern Denmark, Odense, Denmark. jens.michael.hertz@rsyd.dk.
  • Dimke H; Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
  • Engelund MB; Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
  • Nørgaard H; Department of Nephrology, Odense University Hospital, Odense, Denmark.
  • Hansen A; Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.
  • Marcussen N; Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
  • Thiesson HC; Pediatric Clinic, Vestergade 21, Køge, Denmark.
  • Bergmann C; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Larsen MJ; Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.
Pediatr Nephrol ; 37(11): 2657-2665, 2022 11.
Article em En | MEDLINE | ID: mdl-35211789
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Recessivo / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Pediatr Nephrol Assunto da revista: NEFROLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Recessivo / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Pediatr Nephrol Assunto da revista: NEFROLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca