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- Objective:Aim to treat human monogenic inherited diseases and cancers. 目的:基因治疗人类单基因遗传病和癌症。
- ARVD is thought to be an inherited disease. 一般认为ARVD是一种遗传性的疾病。
- Dr Cochran thinks they do exist, and that they are exactly the genes that cause the inherited diseases which afflict Ashkenazi society. 科克伦博士认为它们的确存在，而且正是这种基因引起了折磨德系犹太人的遗传疾病。
- Ectodermal dysplasia(ED)is an X-linked inherited disease. 外胚层发育不全为一遗传疾病，最常见的是性联缺汗性类型。
- While the OFA continues to focus on hip dysplasia, the OFA has expanded into health screening for other inherited diseases and other companion animals such as cats. OFA关注髋关节发育不良的同时，也对其他遗传疾病和伴侣动物如猫等，进行更广泛的健康审查。
- In fact, some inherited diseases have stumped researchers because, in their diligent search for a mutant protein, the investigators ignored the active RNA right under their noses. 事实上，有些遗传疾病之所以难以厘清，只因为研究人员只顾著努力寻找某个蛋白质变种，却忽略了活性RNA就在他们眼前。
- His research focuses on the molecular mechanics of pre-mRNA splicing, the evolution and regulation of alternative splicing, and splicing defects associated with cancers and inherited diseases. 他的研究集中在转录子剪接的分子机制、选择性剪接的演化和调节，以及和剪接缺陷有关的癌症及遗传疾病。
- Congenital long QT syndrome is a group of familial inherited disease. 先天性Q-T间期延长综合征是一组家族遗传性疾病。
- Inherited diseases, such as polycystic kidney disease, which causes large cysts to form in the kidneys and damage the surrounding tissue. 遗传性疾病，如多囊肾病，导致大量囊肿形成的肾脏和破坏周围组织。
- In this study, we investigated the immunodeficiencies in inherited diseases to understand how the alterations in genes affect the molecular mechanisms involved in immune responses. 我们藉著分析遗传疾病中基因改变所造成的免疫缺陷，去了解基因在免疫反应的分子机转所扮演的角色。
- Leber hereditary optic neuropathy is an inherited disease mainly correlated with papillomacular bundle and resulting in degeneration of the optic nerve. Leber 遗传性视神经病变(Leber hereditary optic neuropathy,LHON)系一种主要累及视盘黄斑束纤维，导致视神经退行性变的遗传性疾病。
- In one particular inherited disease, sickle cell anaemia, the red blood cells, instead of being flat discs, are sickle shaped. 在一种特殊的遗传疾病镰形细胞贫血症中，红血球不是圆盘状而是镰刀状。
- Hepatolenticular degeneration (HLD) is an autosomal reoessively inherited disease caused by copper metabolic dysfunction. 肝豆状核变性(Hepatolenticular degeneration,HLD)是一种铜代谢紊乱而引起的常染色体隐性遗传的疾病。
- Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. 什麽是'巴滕疾病-遗传性神经系统建设的条件造成体细胞色素'?
- Thalassemia (American English) or thalassaemia (British English) is a dominant trait inherited disease of the red blood cells. 什么是'地中海贫血中间-遗传性疾病导致贫血'?
- The OFA databases are core to the organization's objective of establishing control programs to lower the incidence of inherited disease. OFA数据库，是组织建立防控降低遗传病发生的核心。
- Huntington's disease( HD) is an inherited disease causing the death of dopamine-producing cells in the brain. Its effects are progressive, affecting both mind and body. 亨廷顿氏病（称hd）一种可以导致大脑中产生多巴胺的细胞死亡的，可遗传的疾病。病情会日益加重，同时影响大脑和身体。
- Gene therapy is being developed not only to treat inherited diseases such as cystic fibrosis and hemophilia, but also to grow new blood vessels for heart disease patients as an alternative to dangerous bypass surgery. 基因疗法的发展不仅能治疗像膀胱壁纤维变性、血友病这样的遗传病，还能通过培育新血管为心脏病人避免危险的旁支手术增加一种选择的机会。
- Alpha 1 - antitrypsin deficiency is an inherited disease that predisposes the affected person toemphysema (or lung destruction), especially with smoking. 1型胰岛素缺乏症是种遗传性疾病，偏向发生于肺气肿（或肺损伤）的人身上，特别是吸烟者。
- Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. 先天性角化不良症（DKC）为一少见之遗传性疾病，三项主要特徵为皮肤色素异常、 指甲生长异常及黏膜白斑症。
