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SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expres...
Tallennettuna:
| Julkaisussa: | Sci Rep |
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| Päätekijät: | , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4602186/ https://ncbi.nlm.nih.gov/pubmed/26459573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14867 |
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