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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.413 个北非遗传性视网膜病变和视神经病变家系的临床和遗传谱。
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Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.临床视角：治疗 RPE65 相关的视网膜营养不良。
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Seven novel variants expand the spectrum of related Leber congenital amaurosis in the Chinese population.七个新的变异体扩展了中国人群中相关莱伯先天性黑蒙的谱系。
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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.靶向二代测序揭示了伊朗家族遗传性视网膜疾病的潜在基因缺陷。
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Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.解析 RPE65 基因突变致显性遗传性视网膜色素变性发病机制的研究进展
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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.对视网膜变性患者的全外显子组测序结果进行预筛查，以查找与视网膜变性相关基因中的变异。
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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

作者信息

Yzer S, van den Born L I, Schuil J, Kroes H Y, van Genderen M M, Boonstra F N, van den Helm B, Brunner H G, Koenekoop R K, Cremers F P M

出版信息

J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709.

DOI:10.1136/jmg.40.9.709
PMID:12960219
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735582/
Abstract
摘要