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1.
Background Calpain-10 (CAPN10) has been identified as a susceptibility gene in type 2 diabetes mellitus (T2DM) and insulin resistance. The present study aimed to identify the effects of genetic variations in the CAPN10 gene on the development of type 2 diabetes and hypertension in northern Han Chinese population.Methods We performed a case-control study and genotyped single nucleotide polymorphism (SNP)-44, -43, -19 and -63 of CAPN10 gene in 1046 subjects from the northern China, including 493 patients with T2DM and hypertension and 553 age- and gender-matched normal healthy controls. Results Univariate analysis showed that the four polymorphisms were not independently associated with T2DM and hypertension. However, the frequency distributions of SNP-44 allele C (allele 2) (17.89% vs 9.80%, P=0.0016) and genotype CC (22) (4.21% vs 1.01%, P=0.0059) in obese patients (body mass index ≥ 30 kg/m(2)) were different from those in non-obese patients. Logistic regression analyses revealed that carriers of the 1112/1221 diplotype had a significantly lower odds ratio for diabetes and hypertension (OR=0.399, 95% CI, 0.196–0.814, P=0.0115). The 1112/1121 diplotype associated with significantly increased risk of type 2 diabetes in Mexican-American was not associated with the increased risk in Chinese.Conclusion These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population.  相似文献   

2.
Objective:To explore the relationship between polymorphism of PAI-1 gene and type 2 diabetes mellitus(DM} , hyperten-sion, and coronary heart disease. Methods: The polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene was analyzed by PCRtechnique in 281 subjects. Results: The frequency uf 4G/ 4G genotype and 4G allele uf PAI- 1 in type 2 diabetic patients were in-creased compared with non-diabetic subjects(X2 = 6. 0 and 6. 3 respectively,P<0. 05). In DM group, the frequency of 4G/4.G geno-type and 4G allele of PAI-1 in patients with coronary heart disease were significantly increased than in patients without coronary heart dis-ease (X2 = 6. 9 and 7. 6 respectively,P<0. 05 ,P<0. 01 respecitively). In the model uf multiple factors non-conditional logistic re-gression analyses,coronary lieart disease related to age, obesity ard 'polymorphism of PAI-1(P<0. 001, P<0. 05,P<0. 01 respec-tively). Conclusion :These results suggested that the 4G allele uf PAI-1 gene might be a risk factor of type 2 diabe  相似文献   

3.
Objective: To explore the relationship between the β3-adrenergic receptor(β3-AR)gene and obesity, T2DM. insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β3-AR gene representing the variation Trp/Arg. Results:Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS, FINS,PINS, FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS sub-group without T2DM. Cnclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in ChineseHan population.  相似文献   

4.
Wang G  Li Q  Niu T  Chen C  Xu X 《中华医学杂志(英文版)》2002,115(9):1308-1311
Objective To determine the relationships of Met416Val and XbaI polymorphism of muscle glycogen synthase (GYS1) gene and Trg64Arg variant of the β3-adrenergic-receptor (β3-AR) gene with type 2 diabetes mellitus (DM) and its intermediate phenotypes in the Chinese population. Methods Polymerase chain reaction-oligonucleotide ligation assay and restriction fragment length polymorphism assay were used to evaluate the GYS1 and β3-AR gene polymorphisms in 102 pairs of case-control Chinese spouses.Results Subjects with Met416Val variant had a significantly higher 2-hour post-glucose level than subjects without this variant had in diabetic group (P=0.032).The Met416Val polymorphism of GYS1 gene was not significantly associated with the risk of type 2 DM (adjusted OR=1.67; 95% CI: 0.73-3.81, P=0.223). Subjects with Trp64Arg variant had a significantly higher serum uric acid level than subjects without this variant had in diabetic group (P=0.034). The combination of BMI and Arg64 allele carrier of the β3-AR gene increased the diabetic risk over four-fold (adjusted OR=4.00; 95%CI: 1.53-10.45, P=0.005).Conclusions In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose.It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level.The presence of the Arg64 allele in the β3-AR gene may predispose patients to higher serum uric acid level.  相似文献   

5.
Objective To investigate the association between the polymorphism of codon-54 of the fatty acid binding protein 2 (FABP2) gene and patients with type 2 diabetes, and how to infect metabolism of lipoprotein. Methods The Ala54Thr variation of FABP2 was detected by PCR and Hae-Ⅱ digestion in 225 Chinese subjects, including 117 cases of type 2 diabetes mellitus and 108 cases of normal controls. All cases were detected for fasting plasma lipoprotein. Results (1)The polymorphism restriction site of codon-54 of FABP2 gene results in the substitution of threonine(Thr) for alanine(Ala). Of the 117 diabetic patients screened, 64 (54.7%) were heterozygous, 32 (27.4%) were homozygous for Ala-54 allele and 21 (17.9%) were homozygous for the Thr-54 allele. (2)The frequence of genotype Ala54/Thr54 and Thr54/Thr54 significiantly increased in the type 2 diabetes as compared with that in healthy subjects (P:0.018).(3)The odds ratio of FABP2 genotype Ala54/Thr54 and Thr54/Thr54 for the patients with type 2 diabetes was 1.97(95% confidence intervals is 1.13-3.44). (4)The frequency of the FABP2 mutant thr54 allele was similar in men and women (33.3% and 32.0%, respectively, P=0.675). (5)The patients with type 2 diabetes who carry Ala54/Thr54 and Thr54/Thr54 genotype had a significantly higher level of fasting plasma triglyceride (P=0.003) and lower level of high density lipoprotein cholesterol (HDL-C) (P=0.001)than those with the wild-type. Conclusions (1)FABP2 gene polymorphism seems to be significantly associated with type 2 diabetes; the codon-54 of mutant genotypic frequencies were in Hardy-Weinberg equilibrium. (2)The FABP2 ala54thr polymorphism appears to have no significant difference in men and women. (3)FABP2 polymorphism may have a certain contribution to the abnormity of lipoprotein metabolism in individuals.  相似文献   

6.
Objective To evaluate the role of methylenetetrahydrofolate reductase(MTHFR)gene polymorphisms and plasma homocysteine levels in patients with type 2 diabetes mellitus and diabetic retinopathy(DR).Methods Total of 208 patients with type 2 diabetes mellitus and 57 controls were recruited into the study.MTHFR genetic C677T polymorphisms were determined by PCR-RFLP.Plasma total homocysteine levels were measured using high-performance liquid chromatography(HPLC)with fluorescence detection.Results The frequencies of MTHFR TT homogeneous type,CT heterogeneous type and allele T (28.18?41.82?49.09?were significantly higher in the type 2 diabetes mellitus with diabetic retinopathy group than those without retinopathy(18.37?29.59?33.16?and those of controls (17.54?28.07?31.58?.The presence of the T allele appeared to have a strong association with the development of diabetic retinopathy.The odds ration was 1.94 with a 95?confidence interval of 1.31-2.88.Moreover,plasma homocysteine levels were remarkably higher in patients with TT or CT genotype than in patients with the CC genotype.Concluslon MTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may be considered as a genetic risk factor for diabetic microangiopathy(such as DR)in Chinese patients with type 2 diabetes mellitus.  相似文献   

7.
Background The Taq I B, Msp I and 1405V polymorphisms of cholesteryl ester transfer protein (CETP), an important regulatory factor of lipid metabolism, have been attracted much more attention by the researchers. In this study, we investigated the associations between these 3 polymorphisms of CETP gene and variations in plasma lipid and lipoprotein levels in patients with coronary heart disease (CHD). Methods Genomic DNA was extracted from leukocytes of 203 CHD patients and 100 control subjects using the salting out method. Genotyping of the CETP gene was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Statistical analysis was conducted using the SPSS 10.0 software package. Results The distribution of allele and genotype frequencies of the Taq I B, Msp I, and 1405 Vpolymorphisms was similar in the CHD patient group and the control group. The B1B1 genotype of the Taq I B polymorphism was associated with significantly higher TC (P=0.039) and LDL-C (P=0.044) levels than the B2B2 genotype in CHD patients, and with significantly higher LDL-C (P=0.034) levels than the B2B2 genotype in controls. Homozygotes of the 1405V polymorphism exhibited significantly higher HDL-C levels than VV homozygotes among control subjects (P=0.023). In male CHD patients with unambiguously assigned haplotypes, B2-M2-V/B2-M2-1 patients demonstrated significantly higher HDL-C concentrations than B1-M2-V/B1-M2-1 (P=0.023) and B1-M2-V/B1-M2-V patients (P=0.047). Conclusions Genetic variations in the CETP gene may account for a significant proportion of the differences in plasma lipid and lipoprotein concentrations among the general population. The B1B1 genotype of the Taq I B polymorphism is probably a genetic risk factor for CHD in the study population.  相似文献   

8.
9.
Objective To explore the relationship between vitamin D receptor (VDR) gene polymorphisms and bone mineral density (BMD) in patients with type 2 diabetes mellitus (DM) an d to better understand the pathogenesis of osteoporosis. Methods Ninety seven patients with type 2 DM were recruited for this study. BMD was mea sured by single photon absorptiometry at the lower one third of the nondominant radius and ulna. Polymorphisms of the VDR gene were analyzed by DNA amplificati on with polymerase chain reaction (PCR) and endonuclease digestion with Bsm Ⅰ. Results The respective frequencies of VDR genotypes were BB 18. 6%, Bb 27. 8% and bb 53 . 6%. The Z scores of the three groups were -1. 57±-0. 60, -1. 45±-0. 67 and -1. 41±-0. 81, respectively. Although the BMD of the Bb genotype DM patients was higher than that of BB genotype DM patients and lower than that of bb genoty pe DM patients, there were no significant differences. Conclusion These findings suggest a small influence of VDR gene polymorphism on the BMD of patients with type 2 DM. Further study on the value of VDR genotypes in the pat hogenesis of osteoporosis in diabetes mellitus is still needed.  相似文献   

10.
11.
目的:分析5-脂氧合酶激活蛋白(ALOX5AP)及磷酸二酯酶4D(PDE4D)基因多态性与脑梗死(CI)易患性的分子流行病学特征.方法:收集CI患者396例作为病例组,另选取300名健康体检者作为对照组,运用PCR检测技术和基质辅助激光解析分析2组受检者ALOX5AP基因中SG13S89、SG13S114和PDE4D基因中SNP83的多态性,分析ALOX5AP及PDE4D基因多态性与CI的关系.结果:病例组SG13S89中AG基因型、A等位基因频率均高于对照组(P<0.05).多元logistic逐步回归分析显示,调整年龄、高血压及糖尿病等因素的影响后,SG13S89中AG基因型是增加CI发生的危险性因素(P<0.05);AT型及SAD型CI患者SG13S89基因中的基因型及基因频率差异均无统计学意义(P>0.05);年龄分层后分析发现,女性是增加SG13S89基因中的AG基因型发生脑卒中的危险因素(P<0.05).结论:SG13S89中的AG基因型和A等位基因使得CI的频率高于其他等位基因,可能的机制是通过介导的血管炎性反应实现,而未发现SG13S114及SNP83基因的多态性与CI有关.  相似文献   

12.
解偶联蛋白3基因多态性与中国人2型糖尿病的相关性研究   总被引:3,自引:1,他引:2  
目的 探讨解偶联蛋白3(UCP3)基因二核苷酸(CA)n患联重复序列多态标记与中国汉族人2型糖尿病的关系。方法 用PCR-变性聚丙烯酰胺凝胶电泳及银染方法,检测208例南京地区汉族人(2型糖尿病106例,正常对照102例)UCP3基因的(CA)n串联重复序列多态标记比较各组间的等位基因频率和基因型频率。结果 2型糖尿和正常对照组因等位基因频率的分布存在显著性差异(X^2=26.12,P〈0.005  相似文献   

13.
目的:探讨钙蛋白酶基因(Calpain-10,CAPN-10)单核苷酸多态性SNP43、SNP19与2型糖尿病(T2DM)遗传易感性的关系。方法:采用随机病例-对照研究(Case-Control)设计,从2型糖尿病患者外周血有核细胞中提取基因组DNA,用聚合酶链反应(PCR)、限制性片断长度多态(RFLP)等分子遗传学方法,在随机抽取的100例2型糖尿病患者和97例无糖尿病家族史的健康对照中检测多态性候选基因;通过Case-Control比较,统计分析这些基因多态性在2型糖尿病人群和正常人群中的分布特点及这些基因多态性与安徽省铜陵地区人群中2型糖尿病的关联性。结果:①同对照组相比,SNP43的G等位基因频率在2型糖尿病人群中显著升高(82.0%vs72.2%,P<0.05).GG基因型频率(73.0%)也显著高于对照组(55.6%)。G等位基因和GG基因型在两组中差异具有统计学意义(P<0.05)。②SNP19基因频率在上述两组中的频率分布无显著差异,但是其等位基因频率在两组中频率分布却呈显著性差异(P<0.05)。结论:①Calpain-10基因SNP43位点G等位基因直接或间接与汉族人2型糖尿病的遗传易感性相关。②未发现CAPN-10基因SNP19多态性与2型糖尿病遗传易感性相关,但是SNP19等位基因Allele1和Allele2却显示可能直接或间接决定2型糖尿病的遗传易感性。  相似文献   

14.
目的 探讨VDR基因多态性与2型糖尿病肾病的相关性.方法 应用TaqMan荧光探针技术, 对235例2型糖尿病患者其中正常白蛋白尿 (DKD0) 组82例, 微量白蛋白组 (DKD1) 组66例, 大量白蛋白尿组 (DKD2) 组87例和86例健康对照者 (NGT) 组的VDR基因BsmⅠ、ApaⅠ位点SNP进行检测, 比较和分析各组间基因型频率和等位基因频率以及相关临床资料.结果 (1) BsmⅠ位点GG、GA、AA基因型频率分别为0.931、0.066、0.003, 等位基因G和A频率分别为0.964、0.036;ApaⅠ位点CC、CA、AA因型频率分别0.536、0.371、0.093, 等位基因C和A频率分别为0.721、0.279; (2) DKD2组ApaⅠ位点C等位基因频率 (0.770) 高于DKD0组患者 (0.671) , A等位基因频率 (0.230) 低于于DKD0组患者 (0.329) , P<0.05; (3) Logistic回归分析表明VDR基因BsmⅠ位点GG基因型可能是T2DKD发生的独立保护因素 (OR=0.159, P<0.05) , 但与DKD进展无关;ApaⅠ位点SNP与T2DKD的发生及进展均无关 (P>0.05) .25 (OH) D缺乏或不足是T2DKD进展的危险因素 (OR=1.957, P<0.05) .结论 VDR基因BsmⅠ位点GG基因型可能是T2DKD发生的独立保护因素, 但与DKD进展无关;ApaⅠ位点SNP与T2DKD的发生及进展均无关.  相似文献   

15.
目的探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与2型糖尿病伴高血压之间的相互关系。方法以ACE基因为候选基因,应用PCR方法,检测用例2型糖尿病伴高血压患者及117例2型糖尿病无高血压患者的ACE基因。结果2组研究对象DD、DⅠ、Ⅱ基因型分布频率分别为27.16%vs 20.51%、41.98%vs 41.88%、30.86%vs37.61%,D、I等位基因携带率分别为48.15%vs41.45%、51.85%vs58.55%,均有显著性差异(P<0.05),提示ACE基因DD型及D等位基因与2型糖尿病并发高血压的发生有相关性。糖尿病患者中ACE基因I/D多态呈DD型者发生高血压的风险率为Ⅱ型者的1.32倍,且糖尿病伴高血压患者病程显著延长。正常血压糖尿病患者ACE基因 I/D多态性与单纯收缩压(SBP)升高患者ACE基因I/D多态性之间无显著差异,而与单纯舒张压(DBP)升高患者ACE基因I/D多态性之间显著相关。结论ACE基因I/D多态性参与2型糖尿病伴高血压的发病,D等位基因可能是2型糖尿病并发高血压的一个危险因子,且DBP升高在糖尿病伴高血压的发生中起重要作用。  相似文献   

16.
目的研究蛋氨酸合成酶还原酶(MTRR)基因多态性与2型糖尿病合并大血管病变的关系.方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法对175例正常人群、240例2型糖尿病、176例2型糖尿病合并大血管病变(脑梗塞104例、合并冠心病61例、糖尿病足11例)、87例非糖尿病的大血管病变组人群MTRR的A66G进行基因分析.比较上述各组基因型和等位基因频率分布有无差异.结果 4组间等位基因频率分布差异无显著性 (P>0.05),但基因型频率分布差异有显著性 (P<0.05),其中2型糖尿病和2型糖尿病合并大血管病变组AA基因型频率低于正常人群和单纯大血管病变组(P<0.05),AG基因型频率高于正常人群和单纯大血管病变组(P<0.05).结论 MTRR A66G基因多态性可能与2型糖尿病及2型糖尿病合并大血管的发生相关,AG基因型可能是2型糖尿病、2型糖尿病合并大血管病变的危险因素,AA基因型可能是其保护因素.  相似文献   

17.
目的探讨抵抗素+299G/A,PPARγ2 Pro12Ala基因多态性并存与糖尿病大血管病变的关系。方法应用聚合酶链反应 限制性片段长度多态性技术检测296例两个基因多态位点的等位基因、基因型。结果①A组抵抗素基因+299G/A等位基因频率和B组等位基因频率及基因型分布与对照组比较差异均有统计学意义(P<0.05)。PPARγ2基因 Pro/Ala多态位点的等位基因频率与基因型在2型糖尿病组与对照组间比较差异无统计学意义(P>0.05),B组与A组及对照组比较差异均有统计学意义(P<0.05); ②多态位点联合分析表明,同时携带GA/AAPA基因型的T2DM患者患大血管病变风险明显低于仅携带一种或者未携带基因型者(P<0.05)。结论①抵抗素基因+299G/A多态位点的A等位基因及AA基因型,PPARγ2基因 Pro/Ala多态位点的A等位基因可能是大血管病变的保护因素;②同时携带GA/AAPA基因型的T2DM患者大血管病变患病风险更低。  相似文献   

18.
汪晓红  李莉 《重庆医学》2016,(9):1195-1197
目的:探讨维生素D对老年2型糖尿病(T2DM)患者胰岛素抵抗的影响,为该类患者的临床治疗提供可参考依据。方法共纳入160例该院诊断为T2DM的老年患者作为研究对象,采用随机数字法平均分为观察组与对照组,两组患者均给予常规降糖治疗,观察组同时加用骨化三醇(0.5μg/d ,12周)。所有患者均于治疗前及治疗后空腹抽取静脉血检测血糖相关指标及血清25羟基维生素D3[25-(OH)D3]水平。结果治疗后体质量指数(BMI)、空腹血糖(FBG)、糖化血红蛋白(HbA1c)、胰岛素(Fins)、25-(OH)D3及胰岛素抵抗指数(IRI)均较治疗前有明显改善,差异有统计学意义(P<0.05);且治疗后观察组BMI、FBG、HbA1c、Fins、25-(OH)D3及IRI较对照组改善更明显,差异有统计学意义(P<0.05)。不同血清25-(OH)D3水平患者补充维生素D后IRI均有明显改善,差异有统计学意义(P<0.05);血清25-(OH)D3水平低于25 nmol/L的患者同时伴有BMI、FBG、HbA1c、Fins、25-(OH)D3水平的明显改善,差异有统计学意义(P<0.05)。血清25-(OH)D3与BMI、FBG、HbA1c、Fins及IRI存在正相关关系(P<0.05)。结论老年T2DM患者在常规降糖治疗的基础上,补充维生素D可以更好地改善胰岛素抵抗状况,促进患者血糖的平稳。  相似文献   

19.
目的:对传统的腺样体刮除术、鼻内镜下腺样体切吸术、腺样体刮除+鼻内镜下残余腺样体咬切术、鼻内镜下腺样体等离子融切术4种手术方法治疗腺样体肥大进行效果观察及对比研究。方法选取重庆市万州区第五人民医院耳鼻咽喉头颈外科2012年4月至2015年4月收治的148例腺样体肥大患者为研究对象,根据入院时间顺序分为4组,每组37例。A组采用传统的腺样体刮除术;B组采用鼻内镜下腺样体切吸术;C组予以腺样体刮除+鼻内镜下残余腺样体咬切术联合治疗;D组采用鼻内镜下腺样体等离子融切术治疗。观察各组的治疗效果、手术时间、出血量;术后随访半年,比较各组患者腺样体残留率及并发症发生情况。结果其中B、C、D组总有效率显著高于A组患者(χ2=7.731、5.045、7.731,P<0.05),但3组间有效率差异无统计学意义( P>0.05)。B、C、D组手术时间显著高于 A组患者( t=5.819、5.829、2.759,P<0.05);B、C组比D组手术时间长( t=3.555、3.637,P<0.05),差异具有统计学意义;但B、C组间手术时间差异无统计学意义( t=0.149,P>0.05)。B、C组出血量相较于A组明显较高(t=9.305、4.126,P<0.05);D组显著低于A、B、C组(t=8.054、16.559、12.837,P<0.05);而B组显著高于C组出血量( t=5.739,P<0.05)。A组残留率明显高于其他3组(χ2=31.308、31.308、24.667,P<0.05),B、C、D组残留率均较低,差异无统计学意义(P>0.05)。4组间并发症发生率差异并无统计学意义(P>0.05)。结论4种手术方式治疗腺样体肥大各有利弊,应根据患者自身状况和经济情况选择合适的手术治疗方式。  相似文献   

20.
目的 研究小干扰RNA(siRNA)干扰β连环素(β-catenin)表达对肺腺癌A549细胞Wnt/β-catenin信号通路的影响.方法 将A549细胞分为转染β-catenin干扰质粒PGCsil-CTNNB1-siRNA组(干扰质粒组)、转染阴性对照质粒PGCsil-NC-siRNA组(阴性对照组)和未转染质粒组(空白对照组),对各组细胞用实时PCR法检测β-catenin及Wnt/[β-catenin信号通路靶基因细胞周期蛋白(cyclin)D1 mRNA的表达,以噻唑蓝法检测细胞增殖能力,流式细胞术进行细胞周期分析,克隆形成试验检测克隆形成率,Millicell小室试验检测细胞迁徙能力.结果 干扰质粒组细胞β-catenin mRNA 和cyclin D1 mRNA表达均明显低于阴性对照组(0.002 ±0.001比0.023±0.002,P<0.01;0.005±0.002比0.040±0.020,P<0.05)和空白对照组(β-catenin mRNA:0.021±0.003,P<0.01;cyclin D1 mRNA:0.042±0.004,P<0.05);第5~7天细胞增殖能力明显弱于阴性对照组和空白对照组(P<0.05,P<0.01),细胞倍增时间(58.1 h)明显长于阴性对照组(37.9 h,P<0.05)和空白对照组(34.2 h,P<0.05);GO~G1期细胞(86.4%±2.6%)明显多于阴性对照组(73.8%±0.9%,P<0.01)和空白对照组(75.8%±1.5%,P<0.01);细胞克隆形成率(31.6%±7.7%)明显低于阴性对照组(46.9%±7.3%,P<0.05)和空白对照组(44.2%±2.5%,P<0.05),穿过Millicell小室底膜的细胞数(16.0±3.8)明显低于阴性对照组(32.7±3.1,P<0.01)和空白对照组(33.0±2.7,P<0.01).结论 用siRNA干扰β-catenin的表达可抑制肺腺癌细胞Wnt/β-catenin信号通路,降低细胞的增殖能力、克隆形成能力和迁徙能力.Wnt/β-catenin信号通路可能成为肺癌分子靶向治疗的新靶点.  相似文献   

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