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Article

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

9 Mar 2012

Abstract excerpt

Changes at the invariable donor splice site +1 guanine, relatively frequent in human genetic disease, are predicted to abrogate correct splicing, and thus are classified as null mutations. However, their ability to direct residual expression, which might have pathophysiological implications in several diseases, has been poorly investigated. As a model to address this issue, we studied the IVS6+1G>T mutation found...

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PMID: 22426302
DOI: 10.1016/j.bbadis.2012.03.001

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