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Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
Passantino, Rosa; Mangione, Maria Rosalia; Ortore, Maria Grazia; Costa, Maria Assunta; Provenzano, Alessia; Amenitsch, Heinz; Sabbatella, Raffaele; Alfano, Caterina; Martorana, Vincenzo; Vilasi, Silvia.
  • Passantino R; Biophysics Institute, National Research Council, Palermo 90143, Italy.
  • Mangione MR; Biophysics Institute, National Research Council, Palermo 90143, Italy.
  • Ortore MG; Dept. Life and Environmental Sciences, Marche Polytechnic University, Ancona 60131, Italy.
  • Costa MA; Biophysics Institute, National Research Council, Palermo 90143, Italy.
  • Provenzano A; Biophysics Institute, National Research Council, Palermo 90143, Italy.
  • Amenitsch H; Graz University of Technology, 8010 Graz, Austria.
  • Sabbatella R; Ri.MED Foundation, Palermo 90133, Italy.
  • Alfano C; Ri.MED Foundation, Palermo 90133, Italy.
  • Martorana V; Biophysics Institute, National Research Council, Palermo 90143, Italy. Electronic address: vincenzo.martorana@cnr.it.
  • Vilasi S; Biophysics Institute, National Research Council, Palermo 90143, Italy. Electronic address: silvia.vilasi@cnr.it.
Biochim Biophys Acta Proteins Proteom ; 1870(6): 140793, 2022 06 01.
Article en En | MEDLINE | ID: mdl-35618206
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article