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The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens, Sarah; De Zaeytijd, Julie; Syx, Delfien; Vandenbroucke, Roosmarijn E; Smeets, Frédéric; Van Cauwenbergh, Caroline; Leroy, Bart P; Peelman, Frank; Coppieters, Frauke.
Afiliação
  • Naessens S; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Syx D; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Vandenbroucke RE; VIB Center for Inflammation Research, VIB, Ghent, Belgium.
  • Smeets F; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.
  • Van Cauwenbergh C; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Leroy BP; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Peelman F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Coppieters F; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Hum Mutat ; 40(5): 539-551, 2019 05.
Article em En | MEDLINE | ID: mdl-30668888
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Efeito Fundador / Inibidor Tecidual de Metaloproteinase-3 / Domínios e Motivos de Interação entre Proteínas / Degeneração Macular / Mutação Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Efeito Fundador / Inibidor Tecidual de Metaloproteinase-3 / Domínios e Motivos de Interação entre Proteínas / Degeneração Macular / Mutação Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica