Prenatal Diagnosis of Fetal Bone Malformation FGFR3Combined with FLNB Gene Mutation in a Case and Literature Study SHANG Mei-jiao,WANG Yan Department of Obstetrics,the First Affiliated Hospital of Xiamen University,Xiamen,Fujian Province,361001China [Abstract]Objective To analyze the ultrasound,...
在mutationtaster、polyphen2和sift软件中评估变异位点的致病性,三个软件均为高致病性的变异视为致病性突变位点; 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...
The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules. Mutations in the gene encoding filamin B ( FLNB ) cause a spectrum of osteochondrodysplasias, including atel...
在Mutation Taster、Polyphen2和SIFT软件中评估变异位点的致病性,三个软件均为高致病性的变异视为致病性突变位点; 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...
Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N (1998) Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139:5255–5258 Article CAS PubMed Google Scholar Barnes AM, Chang W, Morello R, Cabral ...
Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before. ...
Human MutationFarrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006; 27 (7):705–710. doi: 10.1002/humu...