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

BACKGROUND: 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 patient...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Cao, Li, Peng, Chunyan, Yu, Jing, Jiang, Wei, Yang, Jiyun
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7767543/
https://ncbi.nlm.nih.gov/pubmed/33085829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1537
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