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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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Cell Mol Med
Asıl Yazarlar: Fu, Jiewen, Ma, Lu, Cheng, Jingliang, Yang, Lisha, Wei, Chunli, Fu, Shangyi, Lv, Hongbin, Chen, Rui, Fu, Junjiang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Online Erişim: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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