Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.

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Article

Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.

American journal of human genetics - 1 Mar 1990

Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y

Abstract excerpt

Mnichinan, a variant of alpha 1-antitrypsin (alpha 1-AT) was detected in a Japanese individual with serum alpha 1-AT deficiency (18 mg/dl), associated with aggregated alpha 1-AT molecules in the hepatocytes. Cloning and sequencing of the 10,627-bp-long region containing the Mnichinan gene and the normal M1(Val213) alpha 1-AT gene revealed all five exons of the Mnichinan gene to be identical with the M1(Val213)...

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA
Female
Humans
Male
Molecular Sequence Data
Mutation
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Polymerase Chain Reaction

Restriction Mapping

alpha 1-Antitrypsin

alpha 1-Antitrypsin Deficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 2309708
PMCID: PMC1683626

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2309708-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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