Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Izabel Sokal"'
Autor:
Melissa L Williams, Jason E Coleman, Shannon E Haire, Tomas S Aleman, Artur V Cideciyan, Izabel Sokal, Krzysztof Palczewski, Samuel G Jacobson, Susan L Semple-Rowland
Publikováno v:
PLoS Medicine, Vol 3, Iss 6, p e201 (2006)
BackgroundLeber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that encodes retinal guanylate cyclase-1 (retGC1) were the first
Externí odkaz:
https://doaj.org/article/8d84b8df1c384746aff1d60ac92cb9b9
Autor:
Jijing Pang, Susan L. Semple-Rowland, William W. Hauswirth, Cheryl M. Craft, Izabel Sokal, Shannon E. Haire, Sanford L. Boye, Krzysztof Palczewski
Publikováno v:
Investigative ophthalmologyvisual science. 47(9)
The guanylate cyclase 1 (GC1) knockout (KO) mouse1 is a mammalian model of Leber congenital amaurosis 1 (LCA1).2–4 This autosomal recessive disease represents the earliest and most severe form of retinal degeneration. Diagnosis is made at birth or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401ca2f47b15dc5efc790af3892d661f
https://pubmed.ncbi.nlm.nih.gov/16936082
https://pubmed.ncbi.nlm.nih.gov/16936082
Autor:
Izabel Sokal, Tomas S. Aleman, Artur V. Cideciyan, Krzysztof Palczewski, Melissa L Williams, Shannon E. Haire, Jason E. Coleman, Susan L. Semple-Rowland, Samuel G. Jacobson
Publikováno v:
PLoS Medicine
PLoS Medicine, Vol 3, Iss 6, p e201 (2006)
PLoS Medicine, Vol 3, Iss 6, p e201 (2006)
Background Leber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that encodes retinal guanylate cyclase–1 (retGC1) were the fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b76723c7fdbdb48ce3664d42a785bfd
https://doi.org/10.1371/journal.pmed.0030201
https://doi.org/10.1371/journal.pmed.0030201