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Updated: Jun 12, 2025

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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在UBAP1L和非综合性视网膜 Dystrophies 中的双边功能丧失变体

Ehsan Ullah1, Siying Lin2,3, Jiaxiong Lu4,5

  • 1Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

JAMA ophthalmology
|September 26, 2024
PubMed
概括

在UBAP1L基因的遗传变异与遗传性视网膜发育不良 (IRDs) 有关. 这一发现为诊断和治疗这些具有挑战性的眼睛疾病提供了新的途径.

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