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Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher, David B; Spiga, Ottavia; Sekelska, Martina; Pires, Douglas E V; Bernini, Andrea; Tiezzi, Monica; Kralovicova, Jana; Borovska, Ivana; Soltysova, Andrea; Olsson, Birgitta; Galderisi, Silvia; Cicaloni, Vittoria; Ranganath, Lakshminarayan; Santucci, Annalisa; Zatkova, Andrea.
Afiliación
  • Ascher DB; Department of Biochemistry and Molecular Biology, Bio21 Institute Molecular Science & Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia.
  • Spiga O; Department of Biochemistry, Cambridge University, Cambridge, UK.
  • Sekelska M; Instituto René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, Minas Gerais, Brazil.
  • Pires DEV; Department of Biotechnology, Chemistry and Pharmacy, Department of Excellence 2018-22, University of Siena, Siena, Italy.
  • Bernini A; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Tiezzi M; Department of Biochemistry, Cambridge University, Cambridge, UK.
  • Kralovicova J; Instituto René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, Minas Gerais, Brazil.
  • Borovska I; Department of Biotechnology, Chemistry and Pharmacy, Department of Excellence 2018-22, University of Siena, Siena, Italy.
  • Soltysova A; Department of Biotechnology, Chemistry and Pharmacy, Department of Excellence 2018-22, University of Siena, Siena, Italy.
  • Olsson B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Science, Bratislava, Slovakia.
  • Galderisi S; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Science, Bratislava, Slovakia.
  • Cicaloni V; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Ranganath L; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
  • Santucci A; Clinical Development, Swedish Orphan Biovitrum AB, Stockholm, Sweden.
  • Zatkova A; Department of Biotechnology, Chemistry and Pharmacy, Department of Excellence 2018-22, University of Siena, Siena, Italy.
Eur J Hum Genet ; 27(6): 888-902, 2019 06.
Article en En | MEDLINE | ID: mdl-30737480
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Alcaptonuria / Homogentisato 1,2-Dioxigenasa / Genotipo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Alcaptonuria / Homogentisato 1,2-Dioxigenasa / Genotipo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido