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

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...

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Bibliografische gegevens
Hoofdauteurs: Wei Xu, Ming Xu, Qinqin Yin, Chuangyi Liu, Qiuxiang Cao, Yun Deng, Sulai Liu, Guiyun He
Formaat: Artikel
Taal:English
Gepubliceerd in: BMC 2023-01-01
Reeks:BMC Medical Genomics
Onderwerpen:
Online toegang:https://doi.org/10.1186/s12920-023-01430-0