Article
Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient.
Internal medicine (Tokyo, Japan) - 1 Apr 2001
Miyahara N, Seyama K, Sato T, Fukuchi Y, Eda R, Takeyama H, Harada M
Abstract excerpt
Alpha-1-antitrypsin (alpha1AT) deficiency is extremely rare among Orientals. We treated a 37-year-old man with severe pulmonary emphysema associated with a low serum concentration of alpha1AT. Mutation analysis of the alpha1AT gene was performed using a reverse transcription-polymerase chain reaction followed by sequencing. The patient proved to be a compound heterozygote carrying a S(iiyama) deficient allele and...
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