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At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactiity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease;(2) the incidence of X-ALD, estimated to be 1:17 000 in all ethnic groups, approximates that of phenylketonuria;(3) noninasie and presymptomatic diagnosis and prenatal diagnosis are aailable; family screening and genetic counseling are key to disease preention; and (4) new therapies, applied early, show promise.

至少1半的X-ALD为成年病人,表现较轻,而作为携带者的女性也可发病。X-ALD在男孩常误诊为注意缺陷/多动综合征,男女可误诊为多发性硬化,并且也是Addison病的病因;(2)据估计X-ALD发病率为1:17 000,类似于苯丙酮尿症;(3)可进行无创性、症状前诊断和产前诊断;家系筛查和遗传咨询是疾病预防的关键;(4)早期采用新的治疗方法非常具有前景。

ADF/Cofilins Proteinic Family Constellation in Cytoskeletal Protein: How Does Depolymerization Occur through Combination of ADF/Cofilins with Actin?

CEPS 思博网--文章书目;-1页数:5 需求点数:20 电子全文:请登入。篇名细胞骨架蛋白中ADF/cofilin蛋白家系的作用:如何与肌动蛋白结合及发挥解聚作用?

Results No mutations were found in GJA8 gene and GJA3 gene in all patients of this pulverulent cataract family.

结果 在该粉尘状白内障家系GJA8基因和GJA3基因的外显子及其邻近的内含子中,均未发现任何突变。

Conelusion:Missense mutation of Tyr486Asp in Exon 5 of UGT1A1 gene is the pathogenic factor of the CN Ⅱ case in the family and recessively inherited.

Tyr486Asp突变是本例CN—Ⅱ家系的致病性基因,该突变不影响UGT1A1基因启动子区苯巴比妥酸的应答元件,其遗传规律符合常染色体隐性遗传。

Missense mutation of Tyr486Asp in Exon 5 of UGT1A1 gene is the pathogenic factor of the CNⅡ case in the family and recessively inherited. The mutation has no influence on the response elements of phenibarbital in the promoter region.

Tyr486Asp突变是本例CN-Ⅱ家系的致病性基因,该突变不影响UGT1A1基因启动子区苯巴比妥酸的应答元件,其遗传规律符合常染色体隐性遗传。

Three crosses between NG94-156 and three varieties were made, and F2 segregative population and two recombined inbred line populations(F7:8) were obtained.

曲茎遗传材料NG94-156与遗传背景不同的3个正常茎品种杂交,获得1个F2群体和2个重组自交家系(F7:8)。

We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia.

对一脊髓小脑性共济失调(Spinocerebenllar ataxia, SCA)家系的患者进行临床特征及相关基因突变研究。

Ninety-eight backcross inbred lines derived from a subspecific cross of Nipponbare/Kasalth// Nipponbare and its genetic linkage map were used to identify quantitative trait locus controlling rice appearance quality traits such as grain length, grain width, length-width ratio, percentage of grains with chalkiness, square of chalky endoperm, degree of endosperm and grain endosperm transparency by composite interval mapping over two year.

利用由98个家系组成的Nipponbare / Kasalath // Nipponbare回交重组自交系(backcross inbred lines,BILs)群体(BC1F9)及其分子连锁图谱,采用复合区间作图的方法,在2个不同年份对粒长、粒宽、粒形、垩白率、垩白大小、垩白度和透明度等7个稻米外观品质性状的数量性状基因位点(Quantitative trait loci, QTL)进行了定位分析。

Ninety-eight backcross inbred lines derived from a subspecific cross of Nipponbare / Kasalath // Nipponbare and its genetic linkage map were used to identify quantitative trait locus controlling rice appearance quality traits such as grain length, grain width, length-width ratio, percentage of grains with chalkiness, square of chalky endosperm, degree of endosperm chalkiness and grain endosperm transparency by composite interval mapping over two years.

利用由98个家系组成的Nipponbare / Kasalath // Nipponbare回交重组自交系(backcross inbred lines,BILs)群体(BC1F9)及其分子连锁图谱,采用复合区间作图的方法,在2个不同年份对粒长、粒宽、粒形、垩白率、垩白大小、垩白度和透明度等7个稻米外观品质性状的数量性状基因位点(Quantitative trait loci, QTL)进行了定位分析。

Methods The 9 STR tetrameric loci and one trimeric tandem repeat locus were chosen from Genome Databank.

18个无关汉族家系共 131份血样采自同一地区。PCR扩增 9号染色体 10个 STR基因座。

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On the other hand, the more important thing is because the urban housing is a kind of heterogeneity products.

另一方面,更重要的是由于城市住房是一种异质性产品。

Climate histogram is the fall that collects place measure calm value, cent serves as cross axle for a few equal interval, the area that the frequency that the value appears according to place is accumulated and becomes will be determined inside each interval, discharge the graph that rise with post, also be called histogram.

气候直方图是将所收集的降水量测定值,分为几个相等的区间作为横轴,并将各区间内所测定值依所出现的次数累积而成的面积,用柱子排起来的图形,也叫做柱状图。

You rap, you know we are not so good at rapping, huh?

你唱吧,你也知道我们并不那么擅长说唱,对吧?