眼界
发表于 2025-3-23 11:01:24
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SLUMP
发表于 2025-3-23 14:59:44
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Paraplegia
发表于 2025-3-23 18:51:38
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MIR
发表于 2025-3-24 02:02:42
,, encodes a centrosomal protein involved in ciliary assembly and ciliary trafficking. Mutations are responsible for autosomal recessive Leber’s congenital amaurosis (LCA), Joubert syndrome, and Bardet-Biedl Syndrome .
泥沼
发表于 2025-3-24 03:50:21
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Adenocarcinoma
发表于 2025-3-24 08:49:55
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Frequency
发表于 2025-3-24 12:17:12
,, encodes battenin, a protein involved in lysosomal function and neuronal transport. Mutations in this gene are associated with a syndromic retinal degeneration, Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), as well as non-syndromic retinal degeneration .
paltry
发表于 2025-3-24 17:38:46
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reperfusion
发表于 2025-3-24 22:33:19
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过度
发表于 2025-3-25 01:48:10
,,ethanolamine and all-trans-retinaldehyde as part of the visual cycle. Recessively inherited mutations can cause a variety of .-related retinopathies that includes Stargardt disease, fundus flavimaculatus, retinitis pigmentosa (rod-cone dystrophy)-like phenotype, cone dystrophy, and cone-rod dystroph