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- autosomal dominant gene 常染色体显性基因
- Objective: To study the effects of rhodopsin (RHO) gene in autosomal dominant retinitis pigmentosa (adRP). 摘要目的:探讨视紫红质基因在视网膜色素变性疾病中的作用。
- This disorder is inherited as an autosomal dominant trait. 本病作为常染色体显性传递。
- Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). 目的 观察一个常染色体显性视网膜色素变性 (autosomal dominant retinitis pigmentosa,ADRP)家系的视紫红质 (rhodopsin,RHO)基因突变特征。
- Tuberous sclerosis (TSC) is a common autosomal dominant disease. 结节性硬化症是一种临床较常见的显性遗传病。
- 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。
- Epidermolytic palmoplantar keratoderma, a rare autosomal dominant hereditary disease, is a keratinization disorder of palms and soles caused by mutation in the keratin 9 gene. 掌蹠表皮松解性角化症是一罕见体显性遗传疾病,主要是因为九号角质素基因发生突变而引起掌蹠角化异常。
- Many features of a person's face are decided by his dominant gene. 人的脸部特征很大程度上是由他身体的显性基因决定的。
- HHT is an autosomal dominant disordercharacterized by vascular dysplasia. HHT是常染色体显性遗传性血管发育异常的一种疾病。
- A beautiful chinchilla with one beige dominant gene. 美丽的龙猫一个米色显性基因。
- 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。
- The Alzheimer in this ancestry appears as autosomal dominant genetic disease. 阿尔茨海默病在本家系中显示为常染色体显性遗传。
- I have inherited my mother's dominant genes. 我继承了我母亲的显性基因。
- Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance.It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. I型神经纤维瘤是一种常见的高外显率的常染色体显性遗传病,编码神经纤维蛋白的抑癌基因NF1的突变能导致I型神经纤维瘤。
- 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。
- A Six-generation Family with Autosomal Dominant Deafness Passed Along: Possibly A New Locus? 六代相传显性遗传耳聋大家系:一个可能的新基因座?
- Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before. 神经纤维瘤病,以前又称von Recknn沙ausen病,属常染色体显性遗传病。
- The effect arises from an accumulation of dominant genes in the F1. 这种现象产生的原因是显性基因在F1代积累。
- Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode. 摘要牙本质形成不良是一种体染色体显性遗传的中胚层缺陷。
- The ear diametre was inherited in a superdominant fashion with the additive gene as the dominant gene. 穗粗的遗传为超显性遗传,且显性基因为增效基因。