Akshay Narayan, Laura J. Taylor, Sian Sperring, Morag Shanks, Penny Clouston, Robert E. MacLaren, Jasmina Cehajic-Kapetanovic
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引用次数: 0
摘要
达农病是一种罕见的多系统 X 连锁显性疾病，由 LAMP2 基因变异引起。它可能与视网膜变性有关，但其特征并不明显。在这里，我们研究了...
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy
Danon disease is a rare, multisystemic X-linked dominant disorder caused by variants in the LAMP2 gene. It can be associated with retinal degeneration, but this is not well characterized. Here we d...
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Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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