
BBS9 Gene - GeneCards | PTHB1 Protein | PTHB1 Antibody
2024年12月24日 · BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include Bardet-Biedl Syndrome 9 and Bardet-Biedl Syndrome . Among …
BBS9 - Wikipedia
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [4] [5] The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone …
BBS9 Bardet-Biedl syndrome 9 [ (human)] - National Center for ...
2025年1月4日 · Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. This gene is downregulated by parathyroid …
Bardet-Biedl 综合症 9(BBS9)基因 | MCE - MCE-生物活性分子 ...
This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues. …
BBS9 Bardet-Biedl syndrome 9 - NIH Genetic Testing Registry …
2024年12月10日 · Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl …
Entry - #615986 - BARDET-BIEDL SYNDROME 9; BBS9 - OMIM
BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic …
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)
Background: BBS9 is a component of the octameric BBSome, a complex that transports membrane proteins to the primary cilium. Results: BBS9 has four folded domains, based on …
BBS9 - SpringerLink
2018年6月26日 · BBS9 encodes one of seven Bardet-Biedl Syndrome (BBS) proteins that form the stable core of a protein complex required for ciliogenesis and that have a likely function in …
<br>BBS9 中新的双等位基因变异导致 Bardet-Biedl ... - X-MOL
临床外显子组测序用于在受影响的个体中寻找引起 BBS 的变异,并在 BBS9 基因 (c.702 + 1del) 中鉴定出一种新的纯合剪接位点变异。 进行桑格测序以进行变异验证和分离研究。
Cytogenomic identification and long-read single molecule real …
2018年1月22日 · Clinical chromosomal microarray (CMA) testing and high-throughput BBS gene panel sequencing detected a homozygous 7p14.3 deletion of exons 1–4 of BBS9 that was …