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

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2014

Joly Philippe, Lacan Philippe, Chapuis-Cellier Colette, Garcia Caroline, Bererd Martine, Francina Alain

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alleles
Share to alpha 1-Antitrypsin
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Protein Conformation

Source

Identifiers

PMID: 24084503
DOI: 10.1016/j.cca.2013.09.017

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

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.PMID 24084503Read ↗

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

Alpha-1-antitrypsin-structure, function and genetic variants.Semantic proximity Read ↗

Alpha‐1 antitrypsin deficiency: A conformational disease associated with lung and liver manifestationsSemantic proximity Read ↗

Absence of association between SPINK1 trypsin inhibitor mutations and Type 1 or 2 diabetes mellitus in India and Germany.Semantic proximity Read ↗

Sequence and evolutionary analysis of the human trypsin subfamily of serine peptidasesSemantic proximity Read ↗

Development of mutant human immunoreactive trypsinogen 1 (IRT1) and mutant human immunoreactive trypsinogen 2 (IRT2) for use in immunoassays.Semantic proximity Read ↗

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

Convergent evolution of somatic escape variants in <i>SERPINA1</i> in the liver in alpha-1 anti-trypsin deficiencySemantic proximity Read ↗

Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca.Semantic proximity Read ↗

Rapid screening for human alpha 1-proteinase inhibitor deficiency.Semantic proximity Read ↗

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.Semantic proximity Read ↗

The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.Semantic proximity Read ↗

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