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Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria.
Afiliação
  • Giacopuzzi E; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Laffranchi M; Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Berardelli R; Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Ravasio V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.
  • Gooptu B; Leicester Institute of Structural and Chemical Biology / NIHR Leicester BRC - Respiratory, University of Leicester, Leicester, UK.
  • Borsani G; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Fra A; Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Hum Mutat ; 39(9): 1203-1213, 2018 09.
Article em En | MEDLINE | ID: mdl-29882371
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Biologia Computacional / Deficiência de alfa 1-Antitripsina Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Biologia Computacional / Deficiência de alfa 1-Antitripsina Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália