Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A(2), Cause Benign Fleck Retina

Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or limited distribution of yellow-white retinal lesions of various sizes and configurations. Three siblings who have benign fleck retina and were bo...

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Auteurs principaux: Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Lenassi, Eva, Li, Zheng, Robson, Anthony G., Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W., Holder, Graham E., Jeffery, Glen, Beck, Jonathan A., Moore, Anthony T., Plagnol, Vincent, Webster, Andrew R.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234375/
https://ncbi.nlm.nih.gov/pubmed/22137173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.004
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