Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Retinitis pigmentosa is a genetically heterogeneous group of inherited ocular disorders characterized by progressive photoreceptor cell loss, night blindness, constriction of the visual field, and progressive visual disability. Homozygosity mapping and gene expression studies identified a 2 exon gen...

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Main Authors: Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.
格式: Artigo
語言:Inglês
出版: Elsevier 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2868997/
https://ncbi.nlm.nih.gov/pubmed/20398886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.03.005
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