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

doi:10.1007/BF01883709

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Article

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

The Japanese journal of human genetics - 1 Jun 1993

Yuasa I, Sugimoto Y, Ichinose M, Matsumoto Y, Fukumaki Y, Sasaki T, Okada K

Abstract excerpt

An alpha 1-antitrypsin deficiency associated with pulmonary emphysema was investigated in a 32-year-old Japanese male. Polymerase chain reaction (PCR)-amplified fragments and dot blot hybridization with allele-specific oligonucleotide probes revealed that the patient was homozygous for a C to T t...

Topics

Adult
Codon
Homozygote
Humans
Japan
Male
Nucleic Acid Hybridization
Phenotype
Point Mutation
Polymerase Chain Reaction
Pulmonary Emphysema
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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