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Article

Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.

American journal of respiratory and critical care medicine - 1 Dec 1995

Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S

Abstract excerpt

In contrast to the fact that alpha 1-antitrypsin (alpha 1-AT) deficiency is one of the most common hereditary disorders of Caucasians, deficient variants among Orientals have been recognized to be extremely rare. Only 12 cases of alpha 1-AT deficiency have been reported in Japan, including five cases in which the genetic defects have already been elucidated: Mnichinan (delta Phe52[TTC] and...

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PMID: 8520784
DOI: 10.1164/ajrccm.152.6.8520784

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

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Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.PMID 8520784Read ↗

Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.Semantic proximity Read ↗

[Alpha 1-antitrypsin genes in patients with alpha 1AT deficiency in Japan: mutational analysis and allelic background].Semantic proximity Read ↗

PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan.Semantic proximity Read ↗

Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.Semantic proximity Read ↗

Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan.Semantic proximity Read ↗

A new variant of alpha-1-antitrypsin deficiency (Siiyama) associated with pulmonary emphysema.Semantic proximity Read ↗

Alpha-1-antitrypsin deficiency (Siiyama) as indication for lung transplantation: proper timing for surgical intervention.Semantic proximity Read ↗

A nationwide epidemiological survey of alpha1-antitrypsin deficiency in Japan.Semantic proximity Read ↗

Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.Semantic proximity Read ↗

Alpha-1 antitrypsin deficiency with severe pulmonary emphysema.Semantic proximity Read ↗

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.Semantic proximity Read ↗

The antithrombin III gene polymorphism in Japan: examination for haplotypes relevant to disordered antithrombin III biosynthesis.Semantic proximity Read ↗

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