A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a phenotypically and genetically heterogeneous group of inherited retinal degenerations characterized clinically by night blindness, progressive constriction of the visual fields, and loss of vision, and pathologically by progressive loss of rod and then cone photorecept...

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Detalhes bibliográficos
Main Authors: Li, Lin, Nakaya, Naoki, Chavali, Venkata R.M., Ma, Zhiwei, Jiao, Xiaodong, Sieving, Paul A., Riazuddin, Sheikh, Tomarev, Stanislav I., Ayyagari, Radha, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933346/
https://ncbi.nlm.nih.gov/pubmed/20797688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.08.003
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