Associated Papers
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
Hernández Pérez JM et al.
Gene, 2025
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Ferrarotti I et al.
Orphanet Journal of Rare Diseases, 2024
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.
Shaik NA et al.
Frontiers in Molecular Biosciences, 2022
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE
Therapeutic Advances in Chronic Disease, 2021
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Ottaviani S et al.
Journal of Clinical Laboratory Analysis, 2020
Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.
Wang C et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020
Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
Veith M et al.
International Journal of Chronic Obstructive Pulmonary Disease, 2019
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency.
Ko DH et al.
The Korean Journal of Laboratory Medicine, 2011
Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry.
Chen Y et al.
Clinical Chemistry, 2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
Jardim JR et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0