Articles with "congenital nuclear" as a keyword



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A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.

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Published in 2019 at "Gene"

DOI: 10.1016/j.gene.2019.01.011

Abstract: The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with… read more here.

Keywords: transactivation; maf; cataract; congenital nuclear ... See more keywords