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Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing

BACKGROUND: About 37 genes have been reported to be involved in autosomal recessive retinitis pigmentosa, a hereditary retinal disease. However, causative genes remain unclear in a lot of cases. METHODS: Two sibs of a Chinese family with ocular disease were diagnosed in Eye and ENT Hospital of Fudan...

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書目詳細資料
發表在:BMC Ophthalmol
Main Authors: Wang, Min, Gan, Dekang, Huang, Xin, Xu, Gezhi
格式: Artigo
語言:Inglês
出版: BioMed Central 2016
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938971/
https://ncbi.nlm.nih.gov/pubmed/27391953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-016-0281-6
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