Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa,Molecular Genetics & Genomic Medicine

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Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-21 , DOI: 10.1002/mgg3.1537
Li Cao ₁ , Chunyan Peng _{2,

3} , Jing Yu ₁ , Wei Jiang _{2,

3} , Jiyun Yang _{2,

3}

Affiliation

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 related to RP remain unidentified in many patients. In this study, our aim was to investigate the disease‐causing variants and function of the variants in two Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa (adRP).

更新日期：2020-12-27

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