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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Publicado en:Mol Genet Genomic Med
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BlackWell Publishing Ltd 2015
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299712/
https://ncbi.nlm.nih.gov/pubmed/25629076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.109
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