Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
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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