Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings, M J; Volokhina, E B; de Jong, E K; van de Kar, N; Pauper, M; Hoyng, C B; van den Heuvel, L P; den Hollander, A I

Geerlings, M J; Volokhina, E B; de Jong, E K; van de Kar, N; Pauper, M; Hoyng, C B; van den Heuvel, L P; den Hollander, A I.

Afiliação

Geerlings MJ; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Volokhina EB; Radboud university medical center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Nijmegen, The Netherlands.
de Jong EK; Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
van de Kar N; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Pauper M; Radboud university medical center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Nijmegen, The Netherlands.
Hoyng CB; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van den Heuvel LP; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
den Hollander AI; Radboud university medical center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Nijmegen, The Netherlands.

Clin Genet ; 94(3-4): 330-338, 2018 10.

Article em En | MEDLINE | ID: mdl-29888403

Assuntos

Síndrome Hemolítico-Urêmica Atípica/genética; Complemento C3/genética; Fator I do Complemento/genética; Genótipo; Glomerulonefrite Membranosa/genética; Degeneração Macular/genética; Fenótipo; Síndrome Hemolítico-Urêmica Atípica/metabolismo; Síndrome Hemolítico-Urêmica Atípica/fisiopatologia; Estudos de Coortes; Complemento C3/metabolismo; Fator H do Complemento/genética; Fator H do Complemento/metabolismo; Fator I do Complemento/metabolismo; Predisposição Genética para Doença; Glomerulonefrite Membranosa/metabolismo; Glomerulonefrite Membranosa/fisiopatologia; Humanos; Degeneração Macular/metabolismo; Degeneração Macular/fisiopatologia

Palavras-chave

C3 glomerulopathy; age-related macular degeneration; alternative pathway; atypical hemolytic uremic syndrome; complement system

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Complemento C3 / Glomerulonefrite Membranosa / Fator I do Complemento / Síndrome Hemolítico-Urêmica Atípica / Genótipo / Degeneração Macular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

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