লোডিং...
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
PURPOSE: Cone-rod dystrophy (CRD) is a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. More than 30 genes, including RAB28, have been associated with CRD; however, only a few RAB28 variants have been reported to be associated with CRD. In this study,...
সংরক্ষণ করুন:
| প্রকাশিত: | Invest Ophthalmol Vis Sci |
|---|---|
| প্রধান লেখক: | , , , , , , , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
The Association for Research in Vision and Ophthalmology
2020
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7326575/ https://ncbi.nlm.nih.gov/pubmed/32084271 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.2.29 |
| ট্যাগগুলো: |
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