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[Analysis of alpha 1-antitrypsin deficiency using DNA methods].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde - 1 Aug 1990

Wick U, Kühnl P, Engel W

Abstract excerpt

Deficiency of alpha 1-antitrypsin can be diagnosed by DNA methods that are quick and also give reproducible results. Direct DNA analysis of the M, S, and Z alleles of the alpha 1-antitrypsin gene is possible when two molecular biology techniques are combined: a part of the gene is enzymatically replicated according to the pattern of the human DNA that is to be investigated. On hybridization with the various...

Topics

Alleles
DNA
Exons
Genes, gag
Heterozygote
Humans
Metabolism, Inborn Errors
Nucleic Acid Hybridization
Polymerase Chain Reaction
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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PMID: 2215506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2215506-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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