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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/310903500/29279
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| 題名: | MRI of Enterovirus 71 myelitis with monoplegia |
| 作者: | Shen, WC;Tsai, CH;Chiu, HH;Chow, KC |
| 貢獻者: | 附設醫院放射線部;China Med Coll Hosp, China Med Coll, Dept Radiol, Taichung 407, Taiwan;China Med Coll Hosp, China Med Coll, Sch Med, Taichung 407, Taiwan;China Med Coll Hosp, China Med Coll, Dept Paediat, Taichung 407, Taiwan;China Med Coll Hosp, Dept Med Res, Taichung 407, Taiwan |
| 日期: | 2000 |
| 上傳時間: | 2010-09-24 14:30:43 (UTC+8) |
| 出版者: | SPRINGER VERLAG |
| 摘要: | Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy people, using a previously developed differential PCR method combined with single-strand conformation polymorphism and amplification-created restriction site methods for the carrier detection of the CYP21 gene deficiency. Our results indicated that the rate of occurrence of the heterozygous CAH carrier was about 12 in 1,000, with a gene frequency of 0.0060 and an incidence frequency of 1 in 28,000 in the Chinese population. In addition, 9 cases of CAH families were performed with prenatal diagnosis. Among them, 3 cases were diagnosed as the severe form, 4 cases carried the heterozygous mutation, and 2 were normal. This is the first report of carrier frequency analysis and prenatal diagnosis of al-hydroxylase deficiency in Chinese. |
| 關聯: | NEURORADIOLOGY 42(2):124-127 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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