Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we identified two families, each with three affected siblings sharing large overlapping homozygous regions that harbored the IMP...

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Main Authors: Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917719/
https://ncbi.nlm.nih.gov/pubmed/20673862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.004
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