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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri, Flora; Miko, Agnes; Navasiolava, Nastassia; Kaposi, Ambrus; Verschuere, Shana; Molnar, Beatrix; Li, Qiaoli; Terry, Sharon F; Boraldi, Federica; Uitto, Jouni; van de Wetering, Koen; Martin, Ludovic; Quaglino, Daniela; Vanakker, Olivier M; Tory, Kalman; Aranyi, Tamas.
Afiliação
  • Szeri F; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Pennsylvania, Philadelphia, USA.
  • Miko A; Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.
  • Navasiolava N; Department of Biochemistry, Semmelweis University, Budapest, Hungary.
  • Kaposi A; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.
  • Verschuere S; 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Molnar B; PXE Consultation Center, MAGEC Nord Reference Center for Rare Skin Diseases, Angers University Hospital, Angers, France.
  • Li Q; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.
  • Terry SF; 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Boraldi F; Department of Programming Languages and Compilers, Eötvös Loránd University, Budapest, Hungary.
  • Uitto J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • van de Wetering K; Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.
  • Martin L; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Pennsylvania, Philadelphia, USA.
  • Quaglino D; PXE International, District of Columbia, Washington, USA.
  • Vanakker OM; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Tory K; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Pennsylvania, Philadelphia, USA.
  • Aranyi T; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Pennsylvania, Philadelphia, USA.
Hum Mutat ; 43(12): 1872-1881, 2022 12.
Article em En | MEDLINE | ID: mdl-36317459
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article