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Updated: Jun 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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纤毛病基因CFAP410中的编码和非编码变异会导致早期发生的非综合征性视网膜退化

Riccardo Sangermano1, Priya Gupta1, Cherrell Price1

  • 1Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

NPJ genomic medicine
|November 8, 2024
PubMed
概括

这项研究确定了CFAP410基因中罕见的变异,与早期发病的遗传视网膜退化有关. 这些发现扩大了对CFAP410相关的纤维病变及其在非综合征性视网膜疾病中的作用的理解.

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