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- ERDA1 gene and SEF2-1 gene nucleotide repeated sequence in patients with hereditary spastic paraplegia. 遗传性痉挛性截瘫患者ERDA1和SEF2-1基因三核苷酸重复序列的研究
- The gene defect accounts for 6 percent to 7 percent of all cases of hereditary spastic paraplegia, they said. 6-7%25的遗传性痉挛性截瘫患者存在该基因缺陷。
- Objective To investigate the clinical and genetic characteristics of hereditary spastic paraplegia(HSP). 目的探讨遗传性痉挛性截瘫的临床和遗传特点。
- The Duke scientists began their search for genes associated with the disease by studying two families whose members had hereditary spastic paraplegia. 杜克研究中心的科学家们研究了两个存在遗传性痉挛性截瘫患者的家庭。
- Aim: To explore the feature of hereditary spastic paraplegia with thin corpus callosum ( HSP-TCC) for the profound recognition of this disease. 目的:分析遗传性痉挛性截瘫伴胼胝体发育不良(HSP-TCC)的临床特点,以提高对此病的认识。
- In their study, the Duke researchers found that one form of hereditary spastic paraplegia is linked to a gene called REEP1. 杜克的研究人员发现其中一种遗传性痉挛性截瘫与REEP1基因有关。
- Hereditary spastic paraplegia, one of a number of related inherited disorders, causes progressive limb weakness and stiffness, often resulting in paralysis. 遗传性痉挛性截瘫是一种遗传性疾病,患者症状是下肢进行性萎缩和僵直,其中大多最终将瘫痪。
- DURHAM, N.C.-- Scientists have linked a recently discovered gene to a rare nervous system disease called hereditary spastic paraplegia, for which there is no cure. 科学家最近发现一种新的基因可能与罕见的神经系统疾病--遗传性痉挛性截瘫有关,该疾病目前尚无有效的治疗方法。
- Hereditary spastic paraplegias (HSP) are characterised by symmetric spastic paraplegia, pallhypaesthesia, and urinary dysfunction (uncomplicated HSP). 什麽是'遗传性痉挛性截瘫-继承类型的瘫痪'?
- hereditary spastic paraplegia(HSP) 遗传性痉挛性截瘫
- Keywords Hereditary Spastic Paraplegia;SPG3A;Genome;Polymorphism; 遗传性痉挛性截瘫;SPG3A;基因组;多态性;
- spinal and bulbar muscular hereditary spastic paraplegia (脊髓延髓肌性)遗传性痉孪性截瘫
- Keywords Identical twins;Zygosity diagnosis;Hereditary spastic paraplegia; 孪生子;卵型鉴定;遗传性痉挛性截瘫;
- Novel mutation in the SPG3A gene in an African American family with a n early onset of hereditary spastic paraplegia 一个早期起病的遗传性痉挛性截瘫非裔美国家族中SPG3A基因的新突变
- Keywords Hereditary spastic paraplegia hereditary spinocerebellar ataxia MJD1 gene mutation analysis; 遗传性痉挛性截瘫;遗传性脊髓小脑性共济失调;MJD1基因;突变分析;
- Keywords Hereditary spastic paraplegia (HSP) Trinucleotide Association analysis; 遗传性痉挛性截瘫;三核甘酸序列;相关关系;
- hereditary spastic paraplegia 遗传性痉孪性截瘫
- Laurence-Moon syndrome is a rare hereditary condition associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation. 什么是'劳伦斯文综合征-遗传综合征与精神发育迟滞和性腺机能减退'?
- Primary progressive MS resembles tropical spastic paraplegia, a known STD. 最初的进展性MS类似局部痉挛性麻痹,一种已知的STD。
- BackgroundHereditary spastic paraplegia (HSP or SPG) is a kind of hereditary disorder of nervous system. Autosomal dominant (AD), autosomal recessive (AR), X-linked inheritance have been described for HSP. 遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP或SPG)是一种神经系统遗传病,呈常染色体显性遗传(autosomal dominant,AD)、常染色体隐性遗传(autosomal recessive,AR)和X-连锁隐性遗传(X-linked recessive,XR),其中以AD遗传最为常见。
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