Article
A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.
Bosnian journal of basic medical sciences - 20 May 2017
Mynampati Bharani K, Muthukumarappa Thungapathra, Ghosh Sujata, Ram Jagat
Abstract excerpt
A cataract is a complex multifactorial disease that results from alterations in the cellular architecture, i.e. lens proteins. Genes associated with the development of lens include crystallin genes. Although crystallins are highly conserved proteins among vertebrates, a significant number of polymorphisms exist in human population. In this study, we screened for polymorphisms in crystallin alpha A (CRYAA) and...
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