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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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Bibliografiska uppgifter
I publikationen:BMC Ophthalmol
Huvudupphovsmän: Wang, Min, Gan, Dekang, Huang, Xin, Xu, Gezhi
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2016
Ämnen:
Länkar: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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