Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotorece...

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Detalles Bibliográficos
Autores principales: Brandl, Caroline, Schulz, Heidi L., Charbel Issa, Peter, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard H. F., Stöhr, Heidi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541303/
https://www.ncbi.nlm.nih.gov/pubmed/28644393
http://dx.doi.org/10.3390/genes8070170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541303/
https://www.ncbi.nlm.nih.gov/pubmed/28644393
http://dx.doi.org/10.3390/genes8070170

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