Characterization of Novel Missense Variants ofSERPINA1Gene Causing Alpha-1 Antitrypsin Deficiency

Author:

Matamala Nerea1,Lara Beatriz2,Gomez-Mariano Gema1,Martínez Selene1,Retana Diana1,Fernandez Taiomara1,Silvestre Ramona Angeles3,Belmonte Irene4,Rodriguez-Frias Francisco4,Vilar Marçal5,Sáez Raquel6,Iturbe Igor7,Castillo Silvia8,Molina-Molina María9,Texido Anna10,Tirado-Conde Gema11,Lopez-Campos Jose Luis1213,Posada Manuel114,Blanco Ignacio15,Janciauskiene Sabina1617,Martinez-Delgado Beatriz1

Affiliation:

1. Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER)

2. Respiratory Medicine Department, Coventry University Hospital, Coventry, United Kingdom

3. Biochemistry Unit, Hospital Puerta de Hierro, Madrid, Spain

4. Biochemistry Department, Hospital Vall d’Hebron, Barcelona, Spain

5. Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientificas (CSIC), Valencia, Spain

6. Immunology and Genetics, Hospital Donosti, San Sebastián, Spain

7. Pneumology, Hospital de Zumárraga, Gipuzkoa, Spain

8. Pediatrics, Hospital Clínico de Valencia, Valencia, Spain

9. Pulmonary Medicine, Bellvitge University Hospital, Bellvitge Biomedical Research Institute (IDIBELL), Hospital de Llobregat, Barcelona, Spain

10. Pneumology, Hospital Universitari Sant Joan de Reus, Reus (Tarragona), Spain

11. Complejo Hospitalario Universitario Granada, Parque Tecnológico de las Ciencias de la Salud, Granada, Spain

12. Consorcio Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), and

13. Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio/Universidad de Sevilla, Sevilla, Spain

14. Consorcio Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain

15. Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency (REDAAT), Spanish Society of Pneumology (SEPAR), Fundación Española de Pulmón (RESPIRA), Barcelona, Spain

16. Department of Respiratory Medicine, Hannover Medical School, Hannover, Germany; and

17. Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Member of the German Center for Lung Research (DZL), Hannover, Germany

Publisher

American Thoracic Society

Subject

Cell Biology,Clinical Biochemistry,Pulmonary and Respiratory Medicine,Molecular Biology

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