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

• Main Authors: Wei Xu (Author), Ming Xu (Author), Qinqin Yin (Author), Chuangyi Liu (Author), Qiuxiang Cao (Author), Yun Deng (Author), Sulai Liu (Author), Guiyun He (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...