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Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá, M J; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araújo, J A; Gaspar, M A; Soares, C; Oliveira, A; Henriques, A C; da Costa, A G; Abreu, C P; Ponce, P; Alves, R; Pinho, L; Silva, S E; de Moura, C P; Mendonça, L; Carvalho, F; Pestana, M; Alves, S; Carvalho, F; Oliveira, J P.
Afiliación
  • Nabais Sá MJ; Department of Genetics, Faculty of Medicine, Porto, Portugal.
  • Storey H; Unit of Research and Development of Nephrology (FCT-725), Faculty of Medicine, University of Porto, Porto, Portugal.
  • Flinter F; Molecular Genetics Laboratory, Viapath, UK.
  • Nagel M; Genetics Centre, Guy's and St. Thomas' Hospital National Health Service Foundation Trust, London, UK.
  • Sampaio S; Center for Nephrology and Metabolic Diseases, Weisswasser, Germany.
  • Castro R; Unit of Research and Development of Nephrology (FCT-725), Faculty of Medicine, University of Porto, Porto, Portugal.
  • Araújo JA; Department of Nephrology, Hospital de São João, Porto, Portugal.
  • Gaspar MA; Department of Nephrology, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal.
  • Soares C; Department of Nephrology, Hospital dos Marmeleiros, Funchal, Portugal.
  • Oliveira A; Dialysis Clinic, NephroCare Restelo, Fresenius Medical Care, Lisboa, Portugal.
  • Henriques AC; Department of Nephrology, Hospital de Braga, Braga, Portugal.
  • da Costa AG; Dialysis Clinic Paredes, Diaverum, Paredes, Portugal.
  • Abreu CP; Dialysis Clinic, NephroCare Braga, Fresenius Medical Care, Braga, Portugal.
  • Ponce P; Department of Nephrology, Hospital de Santa Maria, Lisboa, Portugal.
  • Alves R; Dialysis Clinic Lumiar, Diaverum, Lisboa, Portugal.
  • Pinho L; Dialysis Clinic, NephroCare Lumiar, Fresenius Medical Care, Lisboa, Portugal.
  • Silva SE; Dialysis Clinic, NephroCare Viseu, Fresenius Medical Care, Viseu, Portugal.
  • de Moura CP; Dialysis Clinic Paredes, Diaverum, Paredes, Portugal.
  • Mendonça L; Department of Ophthalmology, Porto, Portugal.
  • Carvalho F; Department of Otolaryngology, Porto, Portugal.
  • Pestana M; Medical Genetics Outpatient Clinic, Hospital de São João, Porto, Portugal.
  • Alves S; Department of Ophthalmology, Hospital de Braga, Braga, Portugal.
  • Carvalho F; Unit of Renal Morphology, Department of Nephrology, Hospital Curry Cabral, Lisboa, Portugal.
  • Oliveira JP; Unit of Research and Development of Nephrology (FCT-725), Faculty of Medicine, University of Porto, Porto, Portugal.
Clin Genet ; 88(5): 456-61, 2015 Nov.
Article en En | MEDLINE | ID: mdl-25307543
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autoantígenos / Colágeno Tipo IV / Hematuria / Mutación / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autoantígenos / Colágeno Tipo IV / Hematuria / Mutación / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Dinamarca