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

Article

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

Nihon Kyobu Shikkan Gakkai zasshi - 1 Aug 1992

Nukiwa T, Seyama K, Takahashi H, Kira S

Abstract excerpt

Deficiency of alpha 1-antitrypsin (alpha 1AT), a plasma serine protease inhibitor, increases the risk of precocious pulmonary emphysema. Patients with alpha 1AT deficiency in Japan are extremely rare and no Z type alpha 1AT deficiency, which is one of the most frequent genetic disorders among Cau...

Topics

Alleles
Asian People
Base Sequence
Exons
Genetic Variation
Humans
Japan
Molecular Sequence Data
Point Mutation
Pulmonary Emphysema
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.