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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/310903500/29226
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| 題名: | T allele for VEGF gene-460 polymorphism at the 5 ''-untransiated region - Association with a higher susceptibility to endometriosis |
| 作者: | Hsieh, YY;Chang, CC;Tsai, FJ;Yeh, LS;Lin, CC;Peng, CT |
| 貢獻者: | 附設醫院兒科部;China Med Univ Hosp, Dept Pediat & Med Genet, Taichung, Taiwan;China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan;China Med Univ Hosp, Dept Family Med, Taichung, Taiwan;Natl Chiao Tung Univ, Dept Biol Sci & Technol, Hsinchu, Taiwan |
| 日期: | 2004 |
| 上傳時間: | 2010-09-24 14:27:49 (UTC+8) |
| 出版者: | SCI PRINTERS & PUBL INC |
| 摘要: | We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nucleotide changes. Five mutations and three polymorphisms were identified in this study. Among these, three missense mutations (S471F, P575S, D644G) and one polymorphism (T736I) are novel and could be unique to the Taiwanese. In addition, a previously documented recessive G482R mutation was identified in a heterozygous patient and his nonsymptomatic father, indicating that this mutation might indeed function recessively or dominantly with incomplete penetrance. In conclusion, this is the first report of MC in Taiwan with proven CLCN1 gene mutations and showing high molecular heterogeneity in Taiwanese MC patients. |
| 關聯: | JOURNAL OF REPRODUCTIVE MEDICINE 49(6):468-472 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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