BALK 发表于 2025-3-25 06:28:18
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,,ponsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies and for syndromic features associated with Bardet-Biedl syndrome (BBS). . mutations may also cause isolated retinitis pigmentosa (RP) .陈腐思想 发表于 2025-3-25 15:42:47
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,,kely function in membrane trafficking to the primary cilium . Mutations are responsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies and for syndromic features associated with Bardet-Biedl Syndrome.加入 发表于 2025-3-25 21:54:53
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,,kely function in membrane trafficking to the primary cilium . . in particular has a possible role in regulating light-dependent translocation of arrestin1, which moves between photoreceptor inner and outer segments according to light conditions . Mutations are responsible for rod-cone (86.9%)不妥协 发表于 2025-3-26 07:24:32
,,kely function in membrane trafficking to the primary cilium . Mutations are responsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies and for syndromic features associated with BBS. Ocular features vary widely, however. In a Chinese family with . mutations, patients were found to have谷物 发表于 2025-3-26 08:33:30
,,acular vitelliform dystrophy (AOFVD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), microcornea, rod-cone dystrophy, cataract, posterior staphyloma (MRCS) syndrome, and autosomal recessive bestrophinopathy (ARB) .EWE 发表于 2025-3-26 15:38:24
,,-linked and have been reported to cause 55% of congenital stationary night blindness (CSNB). They have also been associated with cone-rod dystrophy, Aland Eye Disease, and retinal and optic disc atrophy .initiate 发表于 2025-3-26 18:00:45
,,restin1, which moves between photoreceptor inner and outer segments according to light conditions . Mutations are responsible for rod-cone (86.9%) and cone-rod (13.1%) dystrophies and for syndromic features associated with BBS.