Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations

The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). Changes in the promoter region, c...

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Hlavní autoři: Sun, Wenyu, Gerth, Christina, Maeda, Akiko, Lodowski, David T., Van Der Kraak, Lauren, Saperstein, David A., Héon, Elise, Palczewski, Krzysztof
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2441904/
https://ncbi.nlm.nih.gov/pubmed/17512964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2007.04.005
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