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

• Hlavní autoři: Wei Xu (Autor), Ming Xu (Autor), Qinqin Yin (Autor), Chuangyi Liu (Autor), Qiuxiang Cao (Autor), Yun Deng (Autor), Sulai Liu (Autor), Guiyun He (Autor)
• Médium: Kniha
• Vydáno: BMC, 2023-01-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...