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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige, Judith; Storey, Helen; Il Cheong, Hae; Gyung Kang, Hee; Park, Eujin; Hilbert, Pascale; Persikov, Anton; Torres-Fernandez, Carmen; Ars, Elisabet; Torra, Roser; Hertz, Jens Michael; Thomassen, Mads; Shagam, Lev; Wang, Dongmao; Wang, Yanyan; Flinter, Frances; Nagel, Mato.
Afiliación
  • Savige J; The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia.
  • Storey H; Molecular Genetics Laboratory, Guy's and St Thomas' Hospital, London, United Kingdom.
  • Il Cheong H; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • Gyung Kang H; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • Park E; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • Hilbert P; Institut de Pathologie et Genetique, Department of Molecular Biology, Gosselles, Belgium.
  • Persikov A; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, United States of America.
  • Torres-Fernandez C; Molecular Genetics Centre GENETAQ, Malaga, Spain.
  • Ars E; Molecular Biology Laboratory and Department of Nephrology, REDINREN, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Torra R; Molecular Biology Laboratory and Department of Nephrology, REDINREN, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Shagam L; Institute of Pediatrics, Pirogov Russian Medical University, Moscow, Russia.
  • Wang D; The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia.
  • Wang Y; The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia.
  • Flinter F; Department of Genetics, Guy's and St Thomas' Hospital, London, United Kingdom.
  • Nagel M; Centre for Nephrology and Metabolic Medicine, Weisswasser D-02943, Germany.
PLoS One ; 11(9): e0161802, 2016.
Article en En | MEDLINE | ID: mdl-27627812
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Nefritis Hereditaria Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Nefritis Hereditaria Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Australia