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cystic fibrosis is an example of a disease where you just have a bad ingredient and you have a disease, and we can actually make a direct correspondence between the ingredient and the disease.
囊性纤维化就是这类病的一个例子, 只要一个“佐料”坏了就能发病, 这里我们真能在基因和疾病间 建立直接的联系。
illnesses causing mental retardation (congenital hypothyroidism, cystic fibrosis, and phenylketonuria) are detected and treated by mass screening of newborns.
可以通过新生儿筛查来发现和治疗造成智力迟钝的疾病(先天性甲状腺机能减退、囊性纤维化和苯丙酮尿症)。
they include such reagents as single-strand conformational polymorphism gels and tension kits with silver, used to diagnose conditions like cystic fibrosis, congenital adrenal hyperplasia, galactosemia, and others.
此类试剂包括用于诊断囊性纤维化、先天肾上腺增生和半乳糖血症等健康状况的单链构象多态性分析凝胶和含银张力试剂盒。
(n) the national centre for medical genetics has had difficulty purchasing single-strand conformational polymorphism (sscp) gels and tension kits with silver, used for screening mutations and to identify conformational changes in the different gene exons needed to diagnose conditions like cystic fibrosis, the von hippel-lindau syndrome, congenital adrenal hyperplasia, gaucher's disease, galactosemia, and others.
(n) 国家遗传医学中心一直难以购买单链构象多态性银染凝胶和试剂盒,用于筛查突变并查明诊断下列病症所需的不同基因外显子的构象变化:囊性纤维化、常染色体显性遗传性肿瘤综合征、先天性肾上腺皮质增生症、戈谢病、半乳糖血症等。