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- autosomal dominant inherited disease 常染色体显性遗传病
- Conclusion The congenital teeth agenesis maily is autosomal dominant inheritant disease. 结论先天缺牙家系多为常染色体显性遗传;
- dominant inherited disease 显性遗传病
- ARVD is thought to be an inherited disease. 一般认为ARVD是一种遗传性的疾病。
- 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'?
- 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。
- Keratosis of palms and soles is a rare inherited disease transimitted as an autosomal dominant trait.It develops soon after birth and usually reaches the maximum severity by the age of 6 months. 摘要手足掌部表皮角质增生症为一遗传性体染色体显性遗传疾病,其主要病微为对称性手足掌部表皮角层增生。
- 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。
- Methods:Fragment analysis based on CEQ8000 sequencer were applied to analyze the CAG repeat of SCA1 gene in two autosomal dominant inherited spinocerebellar ataxia pedigrees. 方法:采用基于CEQ8000核酸分析仪的片段分析方法对2个表型为常染色体显性遗传脊髓小脑共济失调家系进行SCA1基因CAG重复序列突变检测,并分析其临床特征。
- With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance. 据系谱分析,该疾病符合常染色体显性遗传方式。
- According to genetic analysis, this disease is caused by autosomal dominant inheritance. 经过遗传分析,认为该畸形属常染色体显性遗传。
- 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。
- It is obviously autosomal dominant inheritance according to the pedigree. 由于第一代病例仅为右眼虹膜缺损,故较支持中胚层迷走发育的理论。
- 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'?
- An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance. 报道了一个遗传性小眼症家系的调查结果,该家系属于先天性睑裂狭小综合症,为常染色体显性遗传。
- 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。
- 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。