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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson, Joel T; Huang, Mary; Shenelli Croos Dabrera, Marina; Shukla, Krushnam; Rothe, Hansjörg; Hilbert, Pascale; Deltas, Constantinos; Storey, Helen; Lipska-Zietkiewicz, Beata S; Chan, Melanie M Y; Sadeghi-Alavijeh, Omid; Gale, Daniel P; Cerkauskaite, Agne; Savige, Judy.
Afiliação
  • Gibson JT; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
  • Huang M; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
  • Shenelli Croos Dabrera M; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
  • Shukla K; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
  • Rothe H; Centre for Nephrology and Metabolic Disorders, 02943, Weisswasser, Germany.
  • Hilbert P; Departement de Biologie Moleculaire, Institute de Pathologie et de Genetique ASBL, Gosselies, Belgium.
  • Deltas C; Center of Excellence in Biobanking and Biomedical Research, University of Cyprus Medical School, Nicosia, Cyprus.
  • Storey H; Molecular Genetics, Viapath Laboratories, 5th Floor Tower Wing, Guy's Hospital, London, SE1 9RT, UK.
  • Lipska-Zietkiewicz BS; Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
  • Chan MMY; Department of Renal Medicine, University College London, London, UK.
  • Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK.
  • Gale DP; Department of Renal Medicine, University College London, London, UK.
  • Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Savige J; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia. jasavige@unimelb.edu.au.
Sci Rep ; 12(1): 2722, 2022 02 17.
Article em En | MEDLINE | ID: mdl-35177655

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Substituição de Aminoácidos / Colágeno Tipo IV / Estudos de Associação Genética / Glicina / Nefrite Hereditária Tipo de estudo: Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Substituição de Aminoácidos / Colágeno Tipo IV / Estudos de Associação Genética / Glicina / Nefrite Hereditária Tipo de estudo: Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article