Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is a complex group of hereditary retinal dystrophies. Although >60 genes have been identified to be associated with non-syndromic RP, the exact genetic variant remains elusive in numerous cases of RP. In the present study, a Chinese pedigree affected by RP with autosomal...

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Detalles Bibliográficos
Autores principales: Wang, Le, Zou, Tongdan, Lin, Yongqiong, Li, Ling, Zhang, Peng, Gong, Bo, Hao, Jilong, Zhang, Houbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411332/
https://www.ncbi.nlm.nih.gov/pubmed/32705276
http://dx.doi.org/10.3892/mmr.2020.11331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411332/
https://www.ncbi.nlm.nih.gov/pubmed/32705276
http://dx.doi.org/10.3892/mmr.2020.11331

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