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The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant.
Ronzoni, Riccardo; Ferrarotti, Ilaria; D'Acunto, Emanuela; Balderacchi, Alice M; Ottaviani, Stefania; Lomas, David A; Irving, James A; Miranda, Elena; Fra, Annamaria.
Afiliação
  • Ronzoni R; UCL Respiratory and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, UK.
  • Ferrarotti I; Pneumology Unit, Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, IRCCS San Matteo Hospital Foundation, University of Pavia, 27100 Pavia, Italy.
  • D'Acunto E; Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.
  • Balderacchi AM; Pneumology Unit, Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, IRCCS San Matteo Hospital Foundation, University of Pavia, 27100 Pavia, Italy.
  • Ottaviani S; Pneumology Unit, Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, IRCCS San Matteo Hospital Foundation, University of Pavia, 27100 Pavia, Italy.
  • Lomas DA; UCL Respiratory and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, UK.
  • Irving JA; UCL Respiratory and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, UK.
  • Miranda E; Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.
  • Fra A; Italian Pasteur Institute-Cenci Bolognetti Foundation, Sapienza University of Rome, 00185 Rome, Italy.
Int J Mol Sci ; 22(11)2021 May 26.
Article em En | MEDLINE | ID: mdl-34073489
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Deficiência de alfa 1-Antitripsina / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Deficiência de alfa 1-Antitripsina / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article