Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Bietti's crystalline dystrophy (BCD) is a rare, autosomal recessive retinal degenerative disease associated with mutations in CYP4V2. In this study, we describe the genetic and clinical findings in 19 unrelated BCD patients recruited from five international retinal dystrophy clinics. Patients u...

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Bibliographic Details
Main Authors: Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Format: Online
Language:English
Published: BlackWell Publishing Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712/

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