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1.Chronic progressive cervical myelopathy with HTLV I infection: Variant form of HAM/TSP?
伴HTLV-I感染的慢性进行性脊髓颈椎病:是否为HAM/TSP的变异?收藏指正
2.PCSK9 has many sequence variations. Several missense mutations(e.g.S127R and F216L)in PCSK9 are associated with an autosomal dominant form of hypercholesterolemia(ADH).
PCSK9基因有多种序列变异,如错义突变S127R和F216L可引起常染色体显性高胆固醇血症;收藏指正
3.Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family
常染色体显性遗传视网膜色素变性家系视紫红质基因突变分析收藏指正
4.The Study of Loca lization of Autosomal Dominant Retinitis Pigmentosa Gene and Detection of Mutation on Rhodopsin Gene
常染色体显性视网膜色素变性基因定位的研究与视紫红质基因突变的检测收藏指正
5.Mutation analysis of rhodopsin gene in Chinese with autosomal dominant retinitis pigmentosa
常染色体显性遗传RP患者视紫红质基因突变的检测分析收藏指正
6.Expression and secretion of SPARC in body fluid of patients with autosomal dominant polycystic kidney disease
SPARC在常染色体显性多囊肾病患者体液中的表达及其分泌研究收藏指正
7.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。收藏指正
8.an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system.
一种常染色体显性疾病。收藏指正
9.The dominant allele usually controls the normal form of the gene, while mutations are generally RECESSIVE.
显性基因通常控制基因的一般形式,而突变通常是隐性的。收藏指正
10.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。收藏指正