Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mariana Guimarães Ramos"'
Autor:
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homoz
Externí odkaz:
https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783
Autor:
Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13343 (2022)
Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been r
Externí odkaz:
https://doaj.org/article/aadb6df550b04686b11b71b56070c80a