and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia;
使用alamut软件评估突变位点在不同物种中的保守性。 在genecards、pubmed和omin公共数据库中对所有筛选出的高致病性突变进行文献回顾和功能检索,明确变异是否复合遗传模型。 4、sanger测序法验证全外显子组测序结果。 (1)引物设计 1)将flnb基因的碱基序列导入primer5软件,在验证位点的上下游50bp范围内设计引物; 2)...
fetus showed a full forehead,a large head,short limbs,and a narrow thorax.Conclusion The study diagnosed an ACH case through ultrasound,radiography,chromosome and whole-exome sequencing,and detected a new mutation in the FLNB gene,which is not excluded as the onset of AO1,which is a gene ...
A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of ...
在GeneCards、PubMed和OMIN公共数据库中对所有筛选出的高致病性突变进行文献回顾和功能检索,明确变异是否复合遗传模型。 4、Sanger测序法验证全外显子组测序结果。 (1)引物设计 1)将FLNB基因的碱基序列导入Primer5软件,在验证位点的上下游 50bp范围内设计引物; 2)选择最佳引物进行后续PCR验证; (2)PCR扩增 PCR反应...
Gene ID (NCBI) 2317 Alternative Names ABP-278;ABP-280;AOI;FH1;FLN-B;FLN1L;LRS1;SCT;TABP;TAP Application Notes: The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user. ...
致病基因为FGFR3基因,GeneReviews收录该症分子遗传学检测信息如下: 基因检测: 已发现致病变异中99%为FGFR3基因c.G1138A:p.G380R变异,应该首选一代测序,如无发现变异,则选择二代测序。 治疗: 目前主要是对症治疗,生长激素对部分病例有效。腿部增长...
背景资料Filamin B,beta (FLNB),also known as Filamin B,beta (truncated actin binding protein 278 homolog),is a cytoplasmic protein which in humans is encoded by the FLNB gene.This gene encodes a member of the filamin family.The encoded protein interacts with glycoprotein Ib alpha as part of...
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Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]. Also known as: ABP 278; ABP 280 homolog; Anti-FLNB抗体ABP-278; ABP-280 homolog; ABP278; Actin binding like protein; Actin binding ...