This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. ...
不同患儿的治疗方案及效果不同，１名ＳＤＳ患儿药物治疗效果欠佳，其他患儿处于临床稳定状态。所有患儿至今未发生恶性转化。结论 ＳＤＳ患儿的临床表现可能不典型，临床医师应引起重视。ＳＢＤＳ杂合突变携带者可表现为血细胞减少，杂合ｃ．２５８＋２Ｔ＞Ｃ突变可能是其易感因素之一。【关键词】 ＳＢＤＳ基因； ...
SBDS的全称:Shwachman-Bodian-Diamond Syndrome (gene) | 中文意思:───Shwachman--博迪恩钻石综合征(基因) SBDS的全称:Small Bowel Displacement System | 中文意思:───小肠位移系统 SBDS的全称:Simulation-Based Design System | 中文意思:───基于仿真的设计系统 SBDS的全称:Sustainable Business Development Se...
This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017] 基因名: SBDS 别名: SDS,SWDS,CGI-97 基因ID: 51119 Chromosome:(GRCh37) 7 Start: 66452690 End: 66460588 Strand: 信号通路: SBDS 基因突变与药物...
This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. ...
Mutations in SBDS gene explain, by literature, 90% of SDS cases. The Italian experience shows that only the 5% of individuals diagnosed as affected by SDS on clinical and hematological grounds lack mutations in the SBDS gene. It is well established that SBDS protein is essential for the ...
Mutations within its gene are associated with Shwachman-Bodian-Diamond syndrome.This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook AcronymDefinition SBDSShwachman-Bodian-Diamond Syndrome(gene) SBDSSustainable Business Development Services(Switzerland) SBDSService Bay Diagnostic System(Ford Motor Co.) ...
Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. 仅用于科研。不用于诊断过程。未经明确授权不得转售。
Mutations within its gene are associated with Shwachman-Bodian-Diamond syndrome.This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with ...