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資料載入中.....
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請使用永久網址來引用或連結此文件:
http://ir.cmu.edu.tw/ir/handle/310903500/29100
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| 題名: | Is the short insulin tolerance test safe and reproducible? |
| 作者: | Chen, CC;Wang, TY;Hsu, SY;Chen, RH;Chang, CT;Chen, SJ |
| 貢獻者: | 附設醫院內科部新陳代謝科;China Med Coll Hosp, Div Endocrinol & Metab, Dept Internal Med, Taichung, Taiwan |
| 日期: | 1998 |
| 上傳時間: | 2010-09-24 14:21:29 (UTC+8) |
| 出版者: | JOHN WILEY & SONS LTD |
| 摘要: | Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least sg disease specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice site mutations resulted in exon skipping. Hum Mutat 12:370-376, 1998. (C) 1998 Wiley-Liss, Inc. |
| 關聯: | DIABETIC MEDICINE 15(11):924-927 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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