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

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 autosomal re...

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Detalles Bibliográficos
Autores principales: Xu, Wei, Xu, Ming, Yin, Qinqin, Liu, Chuangyi, Cao, Qiuxiang, Deng, Yun, Liu, Sulai, He, Guiyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847046/
https://www.ncbi.nlm.nih.gov/pubmed/36650547
http://dx.doi.org/10.1186/s12920-023-01430-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847046/
https://www.ncbi.nlm.nih.gov/pubmed/36650547
http://dx.doi.org/10.1186/s12920-023-01430-0

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