ArticleOrphanet journal of rare diseases2018
Description of 22 new alpha-1 antitrypsin genetic variants.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.Orphanet journal of rare diseases · 2024Pooled it
- Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.Respiratory research · 2026Article
- The phenotypic state of biallelicERJ open research · 2025Article
- A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.Croatian medical journal · 2024Article
- Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia · 2024Article
- Alpha-1 Antitrypsin Deficiency.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2023Article
- Characterization of three newRespiratory medicine case reports · 2023Article
- Diagnosis and augmentation therapy for alpha-1 antitrypsin deficiency: current knowledge and future potential.Drugs in context · 2023Review
- COVID-19 Pathology Sheds Further Light on Balance between Neutrophil Proteases and Their Inhibitors.Biomolecules · 2022Review
- New variants of alpha-1-antitrypsin: structural simulations and clinical expression.Respiratory research · 2022Article
- Clinical manifestations of a new alpha-1 antitrypsin genetic variant:Respirology case reports · 2022Article
- Variants ofTherapeutic advances in chronic disease · 2021Review
- Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview ofThe application of clinical genetics · 2021Review
- Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.Hepatology international · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises serum alpha-1 antitrypsin quantification, phenotyping according to the isoelectric focusing pattern and genotyping if necessary. To date, more than 100 SERPINA1 variants have been described and new genetic variants are frequently discovered. Over the past 10 years, 22 new genetic variants of the SERPINA1 gene were identified in the daily practice of the University Medical laboratories of Lille and Lyon (France). Among these 22 variants, seven were Null alleles and one with a M1 migration pattern (M1
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