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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains elusive. Here, we show th...
Tallennettuna:
| Julkaisussa: | Hum Mol Genet |
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| Päätekijät: | , , , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4351378/ https://ncbi.nlm.nih.gov/pubmed/25398945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu573 |
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