Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.

Human genomics - 5 Jun 2023

Lopez-Campos José Luis, Rapun Noelia, Czischke Karen, Jardim José R, Acquier Mariano Fernandez, Munive Abraham Ali, Günen Hakan, Drobnic Estrella, Miravitlles Marc, Osaba Lourdes

Abstract excerpt

BACKGROUND: Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepatic pathogenicity. METHODS: This is a secondary analysis of a study that evaluated the viability of the Progenika diagnostic genotyping system in six different countries by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to alpha 1-Antitrypsin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha 1-Antitrypsin Deficiency

Share to Genotype

Share to Heterozygote

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37277845
DOI: 10.1186/s40246-023-00497-1
PMCID: PMC10241133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.PMID 37277845Read ↗

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.Semantic proximity Read ↗

Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.Semantic proximity Read ↗

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.Semantic proximity Read ↗

Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.Semantic proximity Read ↗

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.Semantic proximity Read ↗

Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America.Semantic proximity Read ↗

Allelic frequency of pathogenic α1-antitrypsin variants in the Japanese population: Results from a survey of open Japanese genetic variation databases.Semantic proximity Read ↗

Description of 22 new alpha-1 antitrypsin genetic variantsSemantic proximity Read ↗

Undetected mutations across different serum alpha1 antitrypsin thresholds: An analysis of the avatar cohort.Semantic proximity Read ↗

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.Semantic proximity Read ↗

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.Semantic proximity Read ↗

The prevalence of alpha-1 antitrypsin deficiency in Ireland.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.