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A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis

Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone‐and‐rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three...

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Vydáno v:J Cell Mol Med
Hlavní autoři: Fu, Jiewen, Ma, Lu, Cheng, Jingliang, Yang, Lisha, Wei, Chunli, Fu, Shangyi, Lv, Hongbin, Chen, Rui, Fu, Junjiang
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6201214/
https://ncbi.nlm.nih.gov/pubmed/30160356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13841
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