Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1 -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with -associated RP. A cros...

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Veröffentlicht in:Genes 2023-03, Vol.14 (4), p.830
Hauptverfasser: Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, Marques, João Pedro
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Sprache:eng
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