Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram. Heterozygous mut...

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Hauptverfasser: Burgess, Rosemary, Millar, Ian D., Leroy, Bart P., Urquhart, Jill E., Fearon, Ian M., De Baere, Elfrida, Brown, Peter D., Robson, Anthony G., Wright, Genevieve A., Kestelyn, Philippe, Holder, Graham E., Webster, Andrew R., Manson, Forbes D.C., Black, Graeme C.M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Human Genetics 2008
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253971/
https://ncbi.nlm.nih.gov/pubmed/18179881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.08.004
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