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

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.

Clinical genetics - 1 May 2012

Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S

Abstract excerpt

α-1 Antitrypsin deficiency (AATD) caused by null alleles is associated with the total lack of protein and generally it translates into more severe clinical features of pulmonary disease. This is the case of Q0(Ourém) , a rare variant found in several families of Central Portugal caused by the L353fsX376 mutation. A total of 41 patients carrying at least one copy of Q0(Ourém) were evaluated for SERPINA1 levels,...

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 Consanguinity

Share to Gene Order

Share to Portugal

Share to Radiography

Source

Identifiers

PMID: 21457231
DOI: 10.1111/j.1399-0004.2011.01670.x

Genes

SERPINA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.PMID 21457231Read ↗

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

Identification and characterisation of eight novel SERPINA1 Null mutations.Semantic proximity Read ↗

Identification of a novel alpha1-antitrypsin null variant (Q0Cairo).Semantic proximity Read ↗

Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.Semantic proximity Read ↗

Can we change a genetically determined future?Semantic proximity Read ↗

alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G-->A transition in position +1 of intron IC affecting normal mRNA splicing.Semantic proximity Read ↗

[Alpha-1 antitrypsin deficiency caused by Null mutation].Semantic proximity Read ↗

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.Semantic proximity Read ↗

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.Semantic proximity Read ↗

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.Semantic proximity Read ↗

Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.Semantic proximity Read ↗

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism.Semantic proximity Read ↗

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