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Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
Montioli, Riccardo; Desbats, Maria Andrea; Grottelli, Silvia; Doimo, Mara; Bellezza, Ilaria; Borri Voltattorni, Carla; Salviati, Leonardo; Cellini, Barbara.
Affiliation
  • Montioli R; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.
  • Desbats MA; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.
  • Grottelli S; Department of Experimental Medicine, University of Perugia, Perugia, Italy.
  • Doimo M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.
  • Bellezza I; Department of Experimental Medicine, University of Perugia, Perugia, Italy.
  • Borri Voltattorni C; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.
  • Salviati L; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy. Electronic address: leonardo.salviati@unipd.it.
  • Cellini B; Department of Experimental Medicine, University of Perugia, Perugia, Italy. Electronic address: barbara.cellini@unipg.it.
Biochim Biophys Acta Mol Basis Dis ; 1864(11): 3629-3638, 2018 11.
Article in En | MEDLINE | ID: mdl-30251682
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine-Oxo-Acid Transaminase / Pyridoxal Phosphate / Vitamin B Complex / Gyrate Atrophy / Protein Aggregation, Pathological Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2018 Document type: Article Affiliation country: Italy Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine-Oxo-Acid Transaminase / Pyridoxal Phosphate / Vitamin B Complex / Gyrate Atrophy / Protein Aggregation, Pathological Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2018 Document type: Article Affiliation country: Italy Country of publication: Netherlands