Article
Alanine in HI: a silent mutation cries out!
Advances in experimental medicine and biology - 1 Jan 2008
Shah J H, Maguire D J, Munce T B, Cotterill A
Abstract excerpt
It is a widely held paradigm in molecular biology that a change in the third base of a codon is silent in terms of expression. In this investigation, results are presented that challenge that paradigm, at least in terms of one polymorphism in KCNJ11, which is one of five genes that have been implicated in the disorder Hyperinsulinism of Infancy. In two cohorts of Australian patients, an uneven distribution of...
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