Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1537
Abstract: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations… read more here.
Keywords: chinese families; syndromic autosomal; retinitis pigmentosa; non syndromic ... See more keywords
The Families of Non-LTR Transposable Elements within Neritimorpha and Other Gastropoda
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DOI: 10.3390/genes15060783
Abstract: Repeated sequences, especially transposable elements (TEs), are known to be abundant in some members of the important invertebrate class Gastropoda. TEs that do not have long terminal repeated sequences (non-LTR TEs) are frequently the most… read more here.
Keywords: families non; transposable elements; non ltr; ltr transposable ... See more keywords