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- autosomal recessive inherited disease 常染色体隐性遗传病
- recessive inherited disease 隐性遗传病
- ARVD is thought to be an inherited disease. 一般认为ARVD是一种遗传性的疾病。
- 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。
- Objective:To investigate the clinical features of an autosomal recessive inherited ataxia pedigree and exclude known causal genes. 目的:探讨常染色体隐性遗传性共济失调家系的临床特征并排除已知的致病基因。
- Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein breed, was newly reported in Demark. 摘要荷斯坦奶牛脊柱畸形综合征是近年新发现的一种常染色体隐性遗传病,该病对纯合子胎儿是致死性的。
- 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。
- The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern. 因为它是常染色体隐性遗传的,所以它在家族中的发病率是25%25。
- 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。
- The frequencies of non Mongolia wrinkle were 15.41% and 5.42%,the frequencies of autosomal recessive inheritance were 0.3925 and 0.2328 respectively. 蒙古褶为无的出现率分别为15.;41%25和5
- 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。
- 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。
- 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。
- Hip dysplasia is an inherited disease in dogs that is characterized by abnormal development of the acetabulum and head of the femur. It is more common in large breeds. 犬髋关节发育不良是一种遗传病,特征是髋臼及股骨头发育异常。多见于大型犬。