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S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Montioli, Riccardo; Roncador, Alessandro; Oppici, Elisa; Mandrile, Giorgia; Giachino, Daniela Francesca; Cellini, Barbara; Borri Voltattorni, Carla.
Afiliação
  • Montioli R; Department of Life Sciences and Reproduction, University of Verona, Verona, Italy and.
  • Roncador A; Department of Life Sciences and Reproduction, University of Verona, Verona, Italy and.
  • Oppici E; Department of Life Sciences and Reproduction, University of Verona, Verona, Italy and.
  • Mandrile G; Department of Clinical and Biological Sciences, University of Torino, Torino, Italy.
  • Giachino DF; Department of Clinical and Biological Sciences, University of Torino, Torino, Italy.
  • Cellini B; Department of Life Sciences and Reproduction, University of Verona, Verona, Italy and barbara.cellini@univr.it.
  • Borri Voltattorni C; Department of Life Sciences and Reproduction, University of Verona, Verona, Italy and.
Hum Mol Genet ; 23(22): 5998-6007, 2014 Nov 15.
Article em En | MEDLINE | ID: mdl-24990153
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperoxalúria Primária / Mutação de Sentido Incorreto / Transaminases Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperoxalúria Primária / Mutação de Sentido Incorreto / Transaminases Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article