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Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to st...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Nature Publishing Group
2011
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3025782/ https://ncbi.nlm.nih.gov/pubmed/20859302 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.147 |
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