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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...
Autores principales: | Fu, Jiewen, Ma, Lu, Cheng, Jingliang, Yang, Lisha, Wei, Chunli, Fu, Shangyi, Lv, Hongbin, Chen, Rui, Fu, Junjiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201214/ https://www.ncbi.nlm.nih.gov/pubmed/30160356 http://dx.doi.org/10.1111/jcmm.13841 |
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