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

Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.

The journal of applied laboratory medicine - 29 Apr 2021

Bidla Gawa, Rosenblatt David S, Gilfix Brian M

Abstract excerpt

BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is one of the most common hereditary disorders occurring in populations of European origin and is due to variants in SERPINA1, which encodes a protease inhibitor of neutrophil elastase, limiting lung damage from this enzyme. The World Health Organization has recommended that individuals with chronic obstructive pulmonary disease and asthma be tested for AATD. The...

Read the complete abstract on PubMed

Topics

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

Share to alpha 1-Antitrypsin Deficiency
Share to Genotype
Share to Lung

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Pulmonary Disease, Chronic Obstructive

Source

Identifiers

PMID: 33331634
DOI: 10.1093/jalm/jfaa191

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.PMID 33331634Read ↗

Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.Semantic proximity Read ↗

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

Functional and clinical significance of novel SERPINA1 variants on 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 ↗

Real-time PCR detection of PI*S and PI*Z alleles of SERPINA1 gene using SYBR green.Semantic proximity Read ↗

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

Genotyping by high-resolution melting analysis.Semantic proximity Read ↗

Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.Semantic proximity Read ↗

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.Semantic proximity Read ↗

Mutation scanning using high-resolution melting.Semantic proximity Read ↗

A Library of Rare α1-Antitrypsin (AAT) Variant Phenotypes to Aid in the Diagnosis of AAT Deficiency.Semantic proximity Read ↗

Alpha1-antitrypsin deficiency: a clinical-genetic overviewSemantic proximity Read ↗

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