挣扎
发表于 2025-3-25 06:22:47
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LUMEN
发表于 2025-3-25 10:08:37
X-Linked Retinitis Pigmentosa: Current Statusessive restriction of the visual field and pigmentary retinopathy.. At least 28 different genetic loci have been mapped for autosomal dominant, autosomal recessive, and X-linked forms of RP. The X-linked RP (XLRP) subtype is the most severe, with an early
服从
发表于 2025-3-25 14:27:48
Clinical Variabity of Patients Associated with , Gene Mutation the rod photoreceptors. In 1999, it was reported that the RDH5 gene which is localized on chromosome 12ql3-ql4 and encoded 11-cis retinol dehydrogenase, was a causative gene for fundus albipuncataus..) In this study, we characterized the clinical features of Japanese patients associated with mutati
炸坏
发表于 2025-3-25 18:14:56
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cardiovascular
发表于 2025-3-25 23:38:34
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BURSA
发表于 2025-3-26 00:42:54
Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis of mutation in a subset of these families. Some of the RS families exhibited consistency of either severe or mild clinical phenotypes in multiple affected male members. Intrafamilial variability of clinical phenotypes was encountered in affected males of several other RS families.
因无茶而冷淡
发表于 2025-3-26 04:55:38
RP1 Mutation Analysisly characterized by night blindness followed by progressive degeneration of the retina, often culminating in legal or complete blindness in the later decades of life (.). To date 11 autosomal dominant (adRP), 13 autosomal recessive (arRP), 5 X-linked (xlRP), and one digenic form of retinitis pigment
calumniate
发表于 2025-3-26 12:29:06
The Molecular Basis of Achromatopsiahe channel-forming .- (.) and the modulatory (β-subunit (.) of the cone photoreceptor cGMP gated channel — the final component of the cone photoreceptor transduction cascade. Candidate gene screening of these genes in patients affect by Achromatopsia resulted in the identification of a large number
补充
发表于 2025-3-26 15:52:32
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Additive
发表于 2025-3-26 20:32:49
Rhodopsin Mutations in Sectorial Retinitis Pigmentosa retinitis pigmentosa (ARRP) and congenital stationary night blindness (CSNB), a nonprogressive disease. Additionally, mutations in the rhodopsin gene have been observed in patients with sectorial retinitis pigmentosa (SRP). We set out to determine the prevalence of rhodopsin mutations in sectorial