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

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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Bibliographic Details
Main Authors: Wei Xu, Ming Xu, Qinqin Yin, Chuangyi Liu, Qiuxiang Cao, Yun Deng, Sulai Liu, Guiyun He
Format: Article
Language:English
Published: BMC 2023-01-01
Series:BMC Medical Genomics
Subjects:
Retinitis pigmentosa
Retinal dystrophy
WES
TUB
Consanguineous family
Online Access:https://doi.org/10.1186/s12920-023-01430-0

Internet

https://doi.org/10.1186/s12920-023-01430-0

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