Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

BACKGROUND: To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. METHODS: Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment fr...

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Detalles Bibliográficos
Autores principales: Liu, Wei, Guo, Ruru, Hao, Huijie, Ji, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504003/
https://www.ncbi.nlm.nih.gov/pubmed/34635090
http://dx.doi.org/10.1186/s12886-021-02125-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504003/
https://www.ncbi.nlm.nih.gov/pubmed/34635090
http://dx.doi.org/10.1186/s12886-021-02125-9

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