Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
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DOI: 10.1016/j.gene.2017.07.073
Abstract: Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic… read more here.
Keywords: pax6; two chinese; novel pax6; experimental assessment ... See more keywords