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Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis, Kleopatra H; Thodi, Georgia; Iakovou, Konstantinos; Chatzidaki, Maria; Dotsikas, Yannis; Molou, Elina; Triantafylli, Olga; Loukas, Yannis L.
Affiliation
  • Schulpis KH; a Institute of Child Health , Aghia Sophia Children's Hospital , Athens , Greece.
  • Thodi G; b Laboratory of Prenatal and Neonatal Screening , Neoscreen Ltd , Athens , Greece.
  • Iakovou K; a Institute of Child Health , Aghia Sophia Children's Hospital , Athens , Greece.
  • Chatzidaki M; b Laboratory of Prenatal and Neonatal Screening , Neoscreen Ltd , Athens , Greece.
  • Dotsikas Y; c Department of Pharmacy, Laboratory of Pharm. Analysis , National and Kapodestrian University of Athens , Athens , Greece.
  • Molou E; b Laboratory of Prenatal and Neonatal Screening , Neoscreen Ltd , Athens , Greece.
  • Triantafylli O; b Laboratory of Prenatal and Neonatal Screening , Neoscreen Ltd , Athens , Greece.
  • Loukas YL; c Department of Pharmacy, Laboratory of Pharm. Analysis , National and Kapodestrian University of Athens , Athens , Greece.
Scand J Clin Lab Invest ; 77(6): 423-427, 2017 Oct.
Article in En | MEDLINE | ID: mdl-28644047
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Galactosemias / Galactosyltransferases Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Europa Language: En Journal: Scand J Clin Lab Invest Year: 2017 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Galactosemias / Galactosyltransferases Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Europa Language: En Journal: Scand J Clin Lab Invest Year: 2017 Document type: Article Affiliation country: Country of publication: