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[Alpha 1-antitrypsin genes in patients with alpha 1AT deficiency in Japan: mutational analysis and allelic background].
Nukiwa T, Seyama K, Takahashi H, Kira S. Nukiwa T, et al. Among authors: seyama k. Nihon Kyobu Shikkan Gakkai Zasshi. 1992 Aug;30(8):1420-6. Nihon Kyobu Shikkan Gakkai Zasshi. 1992. PMID: 1434214 Japanese.
A new alpha 1AT deficient variant, Siiyama (Ser53(TCC)-Phe53(TTC)), was found in a 39-year-old male with pulmonary emphysema (Seyama K, et al, J Biol Chem, 266, 12627, 1991). Interestingly, 6 out of 10 families with alpha 1AT deficiency in Japan shared the identical …
A new alpha 1AT deficient variant, Siiyama (Ser53(TCC)-Phe53(TTC)), was found in a 39-year-old male with pulmonary emphysema (Seyama …
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.
Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S. Seyama K, et al. Am J Respir Crit Care Med. 1995 Dec;152(6 Pt 1):2119-26. doi: 10.1164/ajrccm.152.6.8520784. Am J Respir Crit Care Med. 1995. PMID: 8520784
The amino acid substitution in this variant occurs in a highly conserved residue of the serpin (serine protease inhibitor) backbone (Seyama K, et al. 1991. J. Biol. Chem. 266:12627-12632). We attempted to determine whether alpha 1-AT deficiency in Japan was caused b …
The amino acid substitution in this variant occurs in a highly conserved residue of the serpin (serine protease inhibitor) backbone (Seya …
207 results