本文選題：POCB + 視網(wǎng)膜色素上皮　； 參考：《中國(guó)病理生理雜志》2014年10期

【摘要】：正外顯子組測(cè)序發(fā)現(xiàn)一種在POC1B純合子編碼POC1中心粒蛋白B的錯(cuò)義突變(c.317CG[p.Arg106Pro]),存在于常染色體隱性遺傳錐細(xì)胞營(yíng)養(yǎng)不良或錐桿細(xì)胞營(yíng)養(yǎng)不良的3名同胞,以及與他們不相關(guān)的、伴有復(fù)合性雜合POC1B突變(c.199_201del[p.Gln67del]和c.810+1GT)的1名錐桿細(xì)胞營(yíng)養(yǎng)不良患者中。通過(guò)POC1B在人類(lèi)端粒酶永生化視網(wǎng)膜色素上皮
[Abstract]:A missense mutation encoding POC1 centroid B in POC1B homozygous gene encoding POC1 centroid protein B was identified by positive exon sequencing. C. 317CG [p.Arg106Pro] was found in three siblings with autosomal recessive pyramidal dystrophy or pyramidal dystrophy, and with which they were not associated.One patient with cone-cell dystrophy with complex heterozygous POC1B mutation c.199s 201del [p.Gln67del] and c.8101 GTs.Application of POC1B in human telomerase immortalized retinal pigment epithelium
【分類(lèi)號(hào)】：R774.1
，

本文編號(hào)：1769315