A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family

• 主要な著者: Wei Xu (著者), Ming Xu (著者), Qinqin Yin (著者), Chuangyi Liu (著者), Qiuxiang Cao (著者), Yun Deng (著者), Sulai Liu (著者), Guiyun He (著者)
• フォーマット: 図書
• 出版事項: BMC, 2023-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Retinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant proportion of RP, however, remains genetically unsolved. In this study, the genetic basis of a Chinese consanguineous family with presumed auto...