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- 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。
- 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。
- Keywords classic phenylketonuria;prenatal diagnosis;linkage analysis; 经典型苯丙酮尿症;产前诊断;连锁分析;
- Both Bach and Beethoven wrote classical music. 巴赫与贝多芬谱写的都是古典音乐。
- 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
- His writings are full of classical allusions. 他的著作里用了很多典故。
- An orchestra usually plays classical music. 管弦乐队通常演奏古典音乐。
- 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。
- I prefer classical music to pop music. 我喜欢古典音乐，不太喜欢流行音乐。
- John is very knowledgeable about classical music. 约翰对古典音乐有丰富的知识。
- She prefers pop music and jazz to classical music. 较之古典音乐她更喜欢流行音乐与爵士音乐。
- 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。
- Is it true that classical music is good for an unborn baby? 古典音乐是不是真的对胎教有好处？
- Classical phenylketonuria 典型的苯丙酮酸尿症
