BALK 发表于 2025-3-25 06:28:18

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保守党 发表于 2025-3-25 08:26:28

,,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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管理员 发表于 2025-3-25 18:29:17

,,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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吸引人的花招 发表于 2025-3-26 02:15:50

,,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.
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查看完整版本: Titlebook: Retinal Dystrophy Gene Atlas; Sarwar Zahid,Kari Branham,Thiran Jayasundera Book 2018 Springer International Publishing AG, part of Springe