WDR34, a candidate gene for non-syndromic rod-cone dystrophy

Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly acc...

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Bibliografiset tiedot
Julkaisussa:Clin Genet
Päätekijät: Solaguren-Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand-Saïd, Saddek, Condroyer, Christel, Lancelot, Marie-Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle, Zeitz, Christina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8049445/
https://ncbi.nlm.nih.gov/pubmed/33124039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13872
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