Identification and characterisation of eight novel SERPINA1 Null mutations.
Autorzy:
Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. .; Department of Molecular Medicine, University of Pavia, Pavia, Italy. . Carroll TP; Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland. . Ottaviani S; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. . Fra AM; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. . O'Brien G; Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland. . Molloy K; Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland. . Corda L; Department of Internal Medicine, Respiratory Disease Unit, Spedali Civili, Brescia, Italy. . Medicina D; Department of Pathology, Spedali Civili of Brescia, Brescia, Italy. . CurranDR; Respiratory Department, Mercy University Hospital, Cork, Ireland. . McElvaney NG; Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland. . Luisetti M; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. .; Department of Molecular Medicine, University of Pavia, Pavia, Italy. .
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