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A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family

OBJECTIVE: To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. METHODS: A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagg...

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Vydáno v:PLoS One
Hlavní autoři: Zhuang, Xiaotong, Wang, Lianqing, Song, Zixun, Xiao, Wei
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4493073/
https://ncbi.nlm.nih.gov/pubmed/26147294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131471
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