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PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency

Nerea Matamala, Gema Gomez-Mariano, Jose Antonio Perez, Beatriz Baladron, María Torres-Durán, Francisco Javier Michel, Raquel Saez, Jose María Hernández-Pérez, Irene Belmonte, Francisco Rodriguez-Frias, Ignacio Blanco, Pavel Strnad, Sabina Janciauskiene, Beatriz Martinez-Delgado
European Respiratory Journal 2020 56: 2719; DOI: 10.1183/13993003.congress-2020.2719
Nerea Matamala
1Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain
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  • For correspondence: neremat@hotmail.com
Gema Gomez-Mariano
1Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain
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Jose Antonio Perez
2Área de Genética. Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Canarias, Spain
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Beatriz Baladron
1Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain
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María Torres-Durán
3Servicio de Neumología. Hospital Álvaro Cunqueiro. EOXI Vigo. Pneumovigo I+i. IIS Galicia Sur, Vigo, Spain
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Francisco Javier Michel
4Servicio de Neumología. Hospital Universitario Donostia, Donostia, Spain
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Raquel Saez
5Genetics and Inmunology. Hospital Universitario Donostia, Donostia, Spain
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Jose María Hernández-Pérez
6Servicio de Neumología. Hospital General de la Palma, Canarias, Spain
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Irene Belmonte
7Biochemistry Department. Hospital Vall d’Hebron, Barcelona, Spain
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Francisco Rodriguez-Frias
7Biochemistry Department. Hospital Vall d’Hebron, Barcelona, Spain
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Ignacio Blanco
8Registro Español de pacientes con déficit de alfa-1 antitripsina (REDAAT). Fundación Española, Barcelona, Spain
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Pavel Strnad
9Department of Internal Medicine III, University Hospital Aachen, Aachen, Germany
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Sabina Janciauskiene
10Department of Respiratory Medicine, Hannover Medical School, Hannover, Germany
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Beatriz Martinez-Delgado
1Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain
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Article Information

vol. 56 no. suppl 64
DOI 
https://doi.org/10.1183/13993003.congress-2020.2719

Published By 
European Respiratory Society
Print ISSN 
0903-1936
Online ISSN 
1399-3003
History 
  • Published online October 28, 2020.

Copyright & Usage 
Copyright ©the authors 2020

Author Information

  1. Nerea Matamala1⇑,
  2. Gema Gomez-Mariano1,
  3. Jose Antonio Perez2,
  4. Beatriz Baladron1,
  5. María Torres-Durán3,
  6. Francisco Javier Michel4,
  7. Raquel Saez5,
  8. Jose María Hernández-Pérez6,
  9. Irene Belmonte7,
  10. Francisco Rodriguez-Frias7,
  11. Ignacio Blanco8,
  12. Pavel Strnad9,
  13. Sabina Janciauskiene10 and
  14. Beatriz Martinez-Delgado1
  1. 1Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain
  2. 2Área de Genética. Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Canarias, Spain
  3. 3Servicio de Neumología. Hospital Álvaro Cunqueiro. EOXI Vigo. Pneumovigo I+i. IIS Galicia Sur, Vigo, Spain
  4. 4Servicio de Neumología. Hospital Universitario Donostia, Donostia, Spain
  5. 5Genetics and Inmunology. Hospital Universitario Donostia, Donostia, Spain
  6. 6Servicio de Neumología. Hospital General de la Palma, Canarias, Spain
  7. 7Biochemistry Department. Hospital Vall d’Hebron, Barcelona, Spain
  8. 8Registro Español de pacientes con déficit de alfa-1 antitripsina (REDAAT). Fundación Española, Barcelona, Spain
  9. 9Department of Internal Medicine III, University Hospital Aachen, Aachen, Germany
  10. 10Department of Respiratory Medicine, Hannover Medical School, Hannover, Germany
  1. Nerea Matamala, Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain. E-mail: neremat{at}hotmail.com

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PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency
Nerea Matamala, Gema Gomez-Mariano, Jose Antonio Perez, Beatriz Baladron, María Torres-Durán, Francisco Javier Michel, Raquel Saez, Jose María Hernández-Pérez, Irene Belmonte, Francisco Rodriguez-Frias, Ignacio Blanco, Pavel Strnad, Sabina Janciauskiene, Beatriz Martinez-Delgado
European Respiratory Journal Sep 2020, 56 (suppl 64) 2719; DOI: 10.1183/13993003.congress-2020.2719

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PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency
Nerea Matamala, Gema Gomez-Mariano, Jose Antonio Perez, Beatriz Baladron, María Torres-Durán, Francisco Javier Michel, Raquel Saez, Jose María Hernández-Pérez, Irene Belmonte, Francisco Rodriguez-Frias, Ignacio Blanco, Pavel Strnad, Sabina Janciauskiene, Beatriz Martinez-Delgado
European Respiratory Journal Sep 2020, 56 (suppl 64) 2719; DOI: 10.1183/13993003.congress-2020.2719
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