Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

BACKGROUND: Retinal dystrophies are a clinically and genetically heterogeneous group of disorders which affect more than two million people worldwide. The present study focused on the role of the ABCA4 gene in the pathogenesis of hereditary retinal dystrophies (autosomal recessive Stargardt disease,...

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Detalles Bibliográficos
Autores principales: Tsipi, Maria, Tzetis, Maria, Kosma, Konstantina, Moschos, Marilita, Braoudaki, Maria, Poulou, Myrto, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792891/
https://www.ncbi.nlm.nih.gov/pubmed/27014590
http://dx.doi.org/10.1016/j.mgene.2016.02.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792891/
https://www.ncbi.nlm.nih.gov/pubmed/27014590
http://dx.doi.org/10.1016/j.mgene.2016.02.002

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