Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
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
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Ottaviani S et al.
Journal of Clinical Laboratory Analysis, 2020
Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.
Veith M et al.
International Journal of Chronic Obstructive Pulmonary Disease, 2019
Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
Hernández Pérez JM et al.
Archivos De Bronconeumologia, 2015
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B et al.
Respiratory Research, 2014
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
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
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