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- Aim:To set up a method of prenatal diagnosis of classic phenylketonuria ( PKU) by linkage analysis of the short tandem repeat(STR) in intron 3 linked to the phenylalanine hydroxylase (PAH) gene. 目的:建立一种利用苯丙氨酸羟化酶(PAH)基因内含子3中短串联重复序列(STR)多态性连锁分析进行经典型苯丙酮尿症(PKU)产前诊断的方法。
- Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia. 目的:研究内蒙古地区经典型苯丙酮尿症(PKU)苯丙氨酸羟化酶(PAH)基因突变的特点和频率,以提高该地区PKU的基因诊断率。
- According to the initial plasma phenylalanine levels, four of the 21 patients belonged to classical phenylketonuria (PKU), seven were mild PKU, and ten were mild HPA. 依照初始血浆苯丙胺酸浓度可将病患分组，在21个病患中，有4人属于典型苯酮尿症，7人为轻型苯酮尿症，另外10人则是轻型苯丙胺酸血症。
- Keywords classic phenylketonuria;prenatal diagnosis;linkage analysis; 经典型苯丙酮尿症;产前诊断;连锁分析;
- Interest in classic music has revived recently. 近来对古典音乐的兴趣又浓厚起来。
- He fall into rapture over classic music. 他对古典音乐喜爱若狂。
- He likes pop; he doesn't care for classic music. 他喜欢流行歌曲，不喜欢古典音乐。
- "War and Peace" is a literary classic. 《战争与和平》是一部经典文学著作。
- She has a taste for classic music. 她喜欢古典音乐。
- The old gentleman had on a classic suit. 那位老年绅士穿著一套古朴的传统服装。
- This novel may well become a classic. 这本小说很可能成为经典著作。
- classic phenylketonuria 典型性苯丙酮酸尿
- It is a classic example of how not to design a new city centre. 这对设计新市中心是个最佳的反面教材。
- The temple has been considered an example of classic design. 人们认为这座神庙是古典式设计的范例。
- Dickens' A Tale of Two Cities is a literary classic. 狄更斯的《双城记》是文学名著。
- Be prepared for the colorized version of the classic. 看那部经典片的彩色拷贝片要有心理准备。
- This church is a classic example of medieval architecture. 这座教堂是中世纪建筑风格的典型实例。
- Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria 经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定
- She made a classic boner and married a crook. 她犯了一个大错误，嫁给了一个骗子。
- The classic loses much in translation. 这部经典作品经翻译后减色不少。
