Raquel Sáez
- Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levelsBy Nerea Matamala, Beatriz Lara, Raquel Sáez, Silvia Castillo, María Molina, Ana Texido, Lara López, Alvaro Otero, Laura Perez, Ignacio Blanco and Beatriz Martinez-DelgadoNerea Matamala1Molecular Genetics, Instituto de Investigación de Enfermedades Raras (IIER), Madrid, SpainBeatriz Lara2Respiratory Medicine Department, Royal Exeter&Devon Hospital, Exeter, United KingdomRaquel Sáez3Inmonology, Genetics, Donostia Hospital, San Sebastian, SpainSilvia Castillo4Pediatra, Hospital Clínico de Valencia, Valencia, SpainMaría Molina5Pulmonary Medicine Department, Bellvitge University Hospital-IDIBELL, Hospitalet de Llobregat (Barcelona), SpainAna Texido6Pneumología, Hospital Universitari Sant Joan de Reus, Reus, Tarragona, SpainLara López1Molecular Genetics, Instituto de Investigación de Enfermedades Raras (IIER), Madrid, SpainAlvaro Otero1Molecular Genetics, Instituto de Investigación de Enfermedades Raras (IIER), Madrid, SpainLaura Perez1Molecular Genetics, Instituto de Investigación de Enfermedades Raras (IIER), Madrid, SpainIgnacio Blanco7Board of Directors of the Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Lung Foundation Breathe, Spanish Society of Pneumology (SEPAR), Barcelona, SpainBeatriz Martinez-Delgado1Molecular Genetics, Instituto de Investigación de Enfermedades Raras (IIER), Madrid, Spain
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