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A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
Ersoy Tunali, Nagehan; Marobbio, Carlo M T; Tiryakioglu, N Ozan; Punzi, Giuseppe; Saygili, Seha K; Onal, Hasan; Palmieri, Ferdinando.
Affiliation
  • Ersoy Tunali N; Department of Molecular Biology and Genetics, Haliç University, Istanbul, Turkey. Electronic address: nagehanersoy@halic.edu.tr.
  • Marobbio CM; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Tiryakioglu NO; Department of Molecular Biology and Genetics, Haliç University, Istanbul, Turkey.
  • Punzi G; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Saygili SK; Istanbul Medical Faculty, Department of Pediatrics, Istanbul University, Istanbul, Turkey.
  • Onal H; Department of Pediatric Metabolism and Nutrition, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Turkey.
  • Palmieri F; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy. Electronic address: ferdinando.palmieri@uniba.it.
Mol Genet Metab ; 112(1): 25-9, 2014 May.
Article in En | MEDLINE | ID: mdl-24721342
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Transport Systems, Basic / Urea Cycle Disorders, Inborn Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Transport Systems, Basic / Urea Cycle Disorders, Inborn Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article