Your browser doesn't support javascript.
loading
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala, Nerea; Gomez-Mariano, Gema; Perez, Jose Antonio; Baladrón, Beatriz; Torres-Durán, María; Michel, Francisco Javier; Saez, Raquel; Hernández-Pérez, Jose María; Belmonte, Irene; Rodriguez-Frias, Francisco; Blanco, Ignacio; Strnad, Pavel; Janciauskiene, Sabina; Martinez-Delgado, Beatriz.
Affiliation
  • Matamala N; Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Gomez-Mariano G; Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Perez JA; Área de Genética, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Tenerife, Spain.
  • Baladrón B; Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Torres-Durán M; Servicio de Neumología, Hospital Álvaro Cunqueiro, Estructura Organizativa de Xestión Integrada Vigo, Pneumovigo I + i, Instituto de Investigación Sanitaria Galicia Sur, Vigo, Spain.
  • Michel FJ; Servicio de Neumología, and.
  • Saez R; Genetica e Inmunología, Hospital Universitario Donostia, País Vasco, Spain.
  • Hernández-Pérez JM; Servicio de Neumología, Hospital General de la Palma, Canarias, Spain.
  • Belmonte I; Biochemistry Department, Hospital Vall d'Hebron, Barcelona, Spain.
  • Rodriguez-Frias F; Biochemistry Department, Hospital Vall d'Hebron, Barcelona, Spain.
  • Blanco I; Registro Español de Pacientes con Déficit de Alfa-1 Antitripsina, Fundación Española, de Pulmón, Respira, Sociedad Española de Neumología y Cirugía Torácica, Barcelona, Spain.
  • Strnad P; Department of Internal Medicine III, University Hospital Aachen, Aachen, Germany.
  • Janciauskiene S; Department of Respiratory Medicine, Biomedical Research in Endstage and Obstructive Lung Disease Hannover, Member of the German Center for Lung Research, Hannover Medical School, Hannover, Germany; and.
  • Martinez-Delgado B; Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Am J Respir Cell Mol Biol ; 63(4): 444-451, 2020 10.
Article in En | MEDLINE | ID: mdl-32515985
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha 1-Antitrypsin / Alpha 1-Antitrypsin Deficiency / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Am J Respir Cell Mol Biol Journal subject: BIOLOGIA MOLECULAR Year: 2020 Document type: Article Affiliation country: Spain Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha 1-Antitrypsin / Alpha 1-Antitrypsin Deficiency / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Am J Respir Cell Mol Biol Journal subject: BIOLOGIA MOLECULAR Year: 2020 Document type: Article Affiliation country: Spain Country of publication: United States