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...

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Detalhes bibliográficos
Main Authors: Arrigoni, Francesca I, Matarin, Mar, Thompson, Pamela J, Michaelides, Michel, McClements, Michelle E, Redmond, Elizabeth, Clarke, Lindsey, Ellins, Elizabeth, Mohamed, Saifullah, Pavord, Ian, Hunt, David M, Moore, Anthony T, Halcox, Julian, Sisodiya, Sanjay M
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha: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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