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

【摘要】：正外顯子組測序發(fā)現(xiàn)一種在POC1B純合子編碼POC1中心粒蛋白B的錯義突變(c.317CG[p.Arg106Pro]),存在于常染色體隱性遺傳錐細胞營養(yǎng)不良或錐桿細胞營養(yǎng)不良的3名同胞,以及與他們不相關的、伴有復合性雜合POC1B突變(c.199_201del[p.Gln67del]和c.810+1GT)的1名錐桿細胞營養(yǎng)不良患者中。通過POC1B在人類端粒酶永生化視網(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
【分類號】：R774.1
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本文編號：1769315