USH2A———二型USHER综合症患者指南 - 知乎
usher综合症（现在真的要开始用简称了）由三个相关致病基因导致，分别是最常见的USH2A，占总患者数的57%到79%，其次是USH2C，对应omim数据库中的 ADGRV1 基因，再其次 …
USH2A Gene - GeneCards | USH2A Protein | USH2A Antibody
2024年12月25日 · USH2A (Usherin) is a Protein Coding gene. Diseases associated with USH2A include Usher Syndrome, Type Iia and Retinitis Pigmentosa 39. Gene Ontology (GO) …
Usher syndrome type 2 | About the Disease | GARD
Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that usually begins in adolescence or adulthood. Vision loss is due to …
中国人群第15常见常染色体体隐性遗传病——USH2A基因相关视网 …
USH2A 基因的致病性缺陷会导致2种 常染色体隐性遗传病， 视网膜色素变性39型 和 Usher综合征2A型。 中国人群 3287对夫妇中既有一对有生育患儿风险，风险值为 1/4。
USH2A - Wikipedia
This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. The encoded basement membrane -associated protein may …
USH2A gene: MedlinePlus Genetics
The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that …
Entry - *608400 - USHERIN; USH2A - OMIM
HGNC Approved Gene Symbol: USH2A. Usherin is a transmembrane protein expressed in various tissues including retinal photoreceptors and cochlear hair cells, with a crucial role in …
常染色体隐性遗传耳聋基因—USH2A - 百度
USH2又分为USH2A、ADGRV1、WHRN这三种基因型，USH2A 基因突变可导致遗传性耳聋及视网膜色素变性症状，亦可仅导致视网膜色素变性 (RP39) 而不伴听力损失。
7399 - Gene ResultUSH2A usherin [ (human)]
USH2A (c.2276 G>T) is the likely disease-causing gene in two non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. Touch sensitivity was impaired in a …
Usher综合征与USH2A基因的研究进展 - 中华眼底病杂志
目前已知USH有14个致病基因，USH2A突变是其最常见的原因。 随着对USH2A基因研究的深入，USH2A致病机制、动物模型建立、临床诊断以及基于基因治疗、细胞移植和RNA剪接的治 …