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Pubmed ID :26493561
Publication Date : //

Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.


Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal disorder caused by loss of cone photoreceptors. Here, we aimed to determine the underlying genetic lesions and phenotypic correlations in two Chinese families with ACHM.

Authors : Li Fen-Fen , Huang Xiu-Feng , Chen Jie , Yu Xu-Dong , Zheng Mei-Qin , Lu Fan , Jin Zi-Bing , Gan De-Kang ,

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