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The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall, Emilie; Chebib, Fouad T; Madsen, Charles D; Senum, Sarah R; Heyer, Christina M; Lanpher, Brendan C; Patterson, Marc C; Albright, Robert C; Yu, Alan S; Torres, Vicente E; Harris, Peter C.
Afiliação
  • Cornec-Le Gall E; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN; European University of Western Brittany, CHU Brest, Brest, France.
  • Chebib FT; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Madsen CD; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Heyer CM; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN.
  • Albright RC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Yu AS; The Kidney Institute, Department of Internal Medicine, Kansas University Medical Center, Kansas City, KS.
  • Torres VE; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
  • Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address: harris.peter@mayo.edu.
Am J Kidney Dis ; 72(2): 302-308, 2018 08.
Article em En | MEDLINE | ID: mdl-29395486

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Colágeno Tipo IV / Canais de Cátion TRPP / Doenças Renais Policísticas / Mutação Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Colágeno Tipo IV / Canais de Cátion TRPP / Doenças Renais Policísticas / Mutação Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article