蛋白功能损伤预测: c.1144G>A:SIFT:Tolerated;Polyphen2:Possibly damaging;MutationTaster:disease_causing 该变异经三种不同的软件分析预测,都显示该位点变化很可能致病。 6、该变异相关联疾病以及症状表现: 相关疾病:(参考数据库:OMIM、HPO、CHPO、Orphanet) ...
蛋白功能损伤预测: c.1144G>A:SIFT:Tolerated;Polyphen2:Possibly damaging;MutationTaster:disease_causing 该变异经三种不同的软件分析预测,都显示该位点变化很可能致病。 6、该变异相关联疾病以及症状表现: 相关疾病:(参考数据库:OMIM、HPO、CHPO、Orphanet) 1.软骨发育不全(OMIM:100800) a)可能出现的临床表型:脑...
参考文献: Liu R, Wei W, Hou H, Cong P, Zhou Y, Yu X. Case Report: Targeted Therapy with Anlotinib for a Rare Case of Spinal Cord Glioblastoma with FGFR3 Mutation. Onco Targets Ther. 2022 Jul 11;15:771-776. doi: 10.2147/OTT.S362185. PMID: 35847381; PMCID: PMC9285856....
The present invention discloses a method to detect FGFR3 gene-specific primers and liquid chip, the chip main phase include: each from the 5 'end of the tag sequence and the 3' end of the target gene mutation site-specific primer sequences for the ASPE primer, the specific primer ...
Liu R, Wei W, Hou H, Cong P, Zhou Y, Yu X. Case Report: Targeted Therapy with Anlotinib for a Rare Case of Spinal Cord Glioblastoma with FGFR3 Mutation. Onco Targets Ther. 2022 Jul 11;15:771-776. doi: 10.2147/OTT.S362185. PMID: 35847381; PMCID: PMC9285856. ...
[Key words] Short limb deformity;Achondroplasia;Fibroblast growth factor receptor-3;Mutation;Prenatal diagnosis 胎儿四肢骨骼发育异常是常见的出生缺陷之一,主要的临床表现以四肢不同程度的肢端短小为主,多见于染色体的异常及各种综合征。产前的超声排畸检查仅能给出提示而不能进行诊断,使遗传咨询的进一步处理困难重重...
[Key words]Fibroblast growth factor receptor 3; Phosphoinositide 3 kinase catalytic alpha polypeptide; Gene mutation; Bladder carcinoma; Prognosis 膀胱癌是泌尿外科常见的肿瘤之一,90%的膀胱癌是移行细胞癌,呈乳头状,术后易复发,但很少发展到浸润...
notinsuspiciouspauent.Conclusion:DetectionofFGr'R~genemutationCandistinguishanddiagnoseachon-dwplasiaingenelevel,itsaccuracyupto95%.Keywords:Achondroplasia;Genemutation;Fibroblastgrowthfactorreceptor3先天性软骨发育不全(achondroplasia,ACH)是d,JL遗传性侏儒症中最常见的类型,呈常染色体显性遗传,主要症状为短肢型...
朋锹科杂志,2008,26(7):597--e001关键词:软骨发育不全;成纤维细胞生长因子受体基因;基因突变;基因诊断中图分类号:R681.1文献标识码:A文章编号:1000-3606(2008)07—0597—04MutationdetectionofFGFR3geneandprenataldiagnosisof卸achondroplasiafamilyPENG伽z1,ZHANGYu7,LI西∥,WUQinf,YANGYuan2(1.Departmentof...
The fibrobiast growth factor TP53 和FGFR3 突变联合检测在可区别鉴定两种不 ( ) receptor 3 FGFR3 mutation is a strong indicator of superficiai biadder [] 6 ,,(), 同进展通路的膀胱癌 。在此问题上尚缺乏同类研 cancer with iow recurrence rate . Cancer Res 2001 61 4 1265 ~ 8 , , , 究...