Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies

PURPOSE: To identify disease-causing mutations in Chinese families who presented with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). METHODS: The pathogenic variant in a Chinese family with autosomal dominant RP was investigated with a specific hereditary eye disease enrichment pane...

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Bibliografiset tiedot
Päätekijät: Yang, Liping, Wu, Lemeng, Yin, Xiaobei, Chen, Ningning, Li, Genlin, Ma, Zhizhong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Molecular Vision 2014
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976687/
https://ncbi.nlm.nih.gov/pubmed/24715753
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