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

Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.

Clinical biochemistry - 1 Apr 2012

Zhan Shing H, Abboud Raja T, Jung Benjamin, Kuchinka Brian, Ralston Diana, Casey Brett, Mattman Andre

Abstract excerpt

AIMS: Alpha(1)-antitrypsin deficiency (AATD) is a clinically under-diagnosed genetic disorder that originates from deleterious mutations in the alpha(1)-antitrypsin (AAT) gene, SERPINA1. Severe deficiency is associated with significant pulmonary and hepatic malfunctions. Conventional clinical diagnosis involves the evaluation of serum AAT level and detection of diseased protein isoforms. In this communication, we...

Read the complete abstract on PubMed

Topics

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

Share to alpha 1-Antitrypsin
Share to alpha 1-Antitrypsin Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Mutation, Missense

Share to Pedigree

Share to Pulmonary Disease, Chronic Obstructive

Share to Pulmonary Emphysema

Share to Radiography

Source

Identifiers

PMID: 22330941
DOI: 10.1016/j.clinbiochem.2012.01.027

Genes

SERPINA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.PMID 22330941Read ↗

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.Semantic proximity Read ↗

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

Functional and structural impact of novel SERPINA1 variants on Alpha-1 Antitrypsin DeficiencySemantic proximity Read ↗

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.Semantic proximity Read ↗

State-of-the-art testing for alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.Semantic proximity Read ↗

Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.Semantic proximity Read ↗

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation SpectrumSemantic proximity Read ↗

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.Semantic proximity Read ↗

Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy.Semantic proximity Read ↗

Sanger and Next-Generation Sequencing of AAT.Semantic proximity Read ↗

Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.Semantic proximity Read ↗

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