Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles.

doi:10.1007/BF01662782

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Article

Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles.

Klinische Wochenschrift - 3 Sept 1990

Poller W, Faber J P, Olek K

Abstract excerpt

Among 20 individuals with severe alpha 1-antitrypsin (alpha 1AT) deficiency we observed extremely variable clinical phenotypes ranging from rapidly progressive lung disease fatal at the age of 42 years to an asymptomatic individual with normal lung function at the age of 50 years. Eighteen subjec...

Topics

Adult
Base Sequence
Exons
Female
Genetic Complementation Test
Humans
Lung Diseases, Obstructive
Male
Middle Aged
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Radiography
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 2214609
DOI: 10.1007/BF01662782

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2214609-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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