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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...
Autores principales: | Wang, Le, Zou, Tongdan, Lin, Yongqiong, Li, Ling, Zhang, Peng, Gong, Bo, Hao, Jilong, Zhang, Houbin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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Materias: | |
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 |
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