Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

PURPOSE. Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families. METHODS. First, we performed direct Sanger sequencing o...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Invest Ophthalmol Vis Sci
Päätekijät: Wang, Hui, Wang, Xia, Zou, Xuan, Xu, Shan, Li, Hui, Soens, Zachry Tore, Wang, Keqing, Li, Yumei, Dong, Fangtian, Chen, Rui, Sui, Ruifang
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Association for Research in Vision and Ophthalmology 2015
Aiheet:
Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4466882/
https://ncbi.nlm.nih.gov/pubmed/26047050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15972
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