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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Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2011
Matèries:
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Accés en línia: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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