Article

Analysis of Circadian Clock Gene <em>BMAL1</em> in Pakistani Congenital Cataract Families

2018-08-06

Abstract excerpt

In mice, mutations or targeted disruptions of the core circadian gene Bmal1 have been implicated in early onset of ocular pathologies, including premature/congenital cataract development. The aim of the present study was to analyze probands of consanguineous Pakistani cataract families to identify the novel pathogenic variants in the BMAL1 gene. We have studied 21 congenital cataract families. Ophthalmic examinati...

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Literature Corpus work: e3df4de5-952d-5a5f-9045-3985ec2eada8
DOI: 10.20944/preprints201808.0108.v1

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