Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Miguel de Sousa Dias"'
Autor:
Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4424 (2021)
Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understan
Externí odkaz:
https://doaj.org/article/879f111cea444e7591367be9f55c0c13
Dissertation presented as the partial requirement for obtaining a Master's degree in Information Management, specialization in Knowledge Management and Business Intelligence Business Intelligence (BI) enables users to quickly access real time informa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1437::cfa2100fe3d661ef56bb1cc474903581
https://hdl.handle.net/10362/149739
https://hdl.handle.net/10362/149739
Autor:
Miguel de Sousa, Dias, Christian P, Hamel, Isabelle, Meunier, Juliette, Varin, Steven, Blanchard, Fiona, Boyard, José-Alain, Sahel, Christina, Zeitz
Publikováno v:
Molecular Vision
Purpose To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. Methods An institutional study of three family members from two generations. The clinical examinati