Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 89 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is...

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Detalles Bibliográficos
Autores principales: Li, Yuyu, Li, Ruyi, Dai, Hehua, Li, Genlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761266/
https://www.ncbi.nlm.nih.gov/pubmed/35033039
http://dx.doi.org/10.1186/s12886-021-02242-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761266/
https://www.ncbi.nlm.nih.gov/pubmed/35033039
http://dx.doi.org/10.1186/s12886-021-02242-5

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