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

Analysis of the allelic diversity of a (CA)n repeat polymorphism among alpha 1-antitrypsin gene products from northern Portugal.

Human genetics - 1 Feb 1997

Rocha J, Pinto D, Santos M T, Amorim A, Amil-Dias J, Cardoso-Rodrigues F, Aguiar A

Abstract excerpt

The level of molecular heterogeneity associated with alpha 1-antitrypsin gene products was assessed in the population of northern Portugal using three restriction fragment length polymorphisms (RFLPs) corresponding to specific amino acid substitutions and a highly variable (CA)n repeat polymorphism located at the 5' end of the PI gene. The allelic affinities inferred from the analysis of the DNA polymorphisms...

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 Delete account & data About Contact Helena Bioinformatics

Share to Dinucleotide Repeats

Share to Polymorphism, Genetic

Share to Polymorphism, Restriction Fragment Length

Share to Portugal

Source

Identifiers

PMID: 9048919
DOI: 10.1007/s004390050337

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Analysis of the allelic diversity of a (CA)n repeat polymorphism among alpha 1-antitrypsin gene products from northern Portugal.PMID 9048919Read ↗

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 ↗

Alpha-1-antitrypsin (PI) polymorphism in France, with special regard to the PI*Z allele.Semantic proximity Read ↗

Alpha1-antitrypsin Pi phenotypes S and Z in Spain: an analysis of the published surveys.Semantic proximity Read ↗

Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys.Semantic proximity Read ↗

Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z.Semantic proximity Read ↗

Alpha-1-antitrypsin (PI) subtypes in Russians and Poles.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 ↗

Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.Semantic proximity Read ↗

PI locus (alpha-1-antitrypsin) allelic frequencies in an Andean Venezuelan population.Semantic proximity Read ↗

DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg).Semantic proximity Read ↗

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.Semantic proximity Read ↗

Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.Semantic proximity Read ↗

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