StoneRounds Case SR1344 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: RP1.

DataCite Commons2024-10-04 更新190

StoneRounds Case SR631 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: PRPF3.

DataCite Commons2023-11-20 更新90

Data_Sheet_1_Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).pdf

遗传性视神经病变

线粒体突变

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutat

NIAID Data Ecosystem40

StoneRounds Case: SR22

资源简介：

StoneRounds Case: SR22

资源简介：

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