Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.900548
Abstract: Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD. Methods: We designed a retrospective study wherein a total of 1,334… read more here.
Keywords: ush2a related; spectrum ush2a; genetic characteristics; spectrum ... See more keywords
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.948279
Abstract: Purpose Mutation in the USH2A gene is the most common cause of inherited retinal dystrophy (IRD), including non-syndromic retinitis pigmentosa (RP) and Usher syndrome II (USH2). Gene editing and therapy targeting USH2A, especially the hotspot… read more here.
Keywords: exon exon; spectrum ush2a; inherited retinal; gene ... See more keywords