Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation
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| Description | scientific article |
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author: Nuala P Murphy Michael N Weedon Sarah Flanagan Feyza Darendeliler Peter E. Clayton Indraneel Banerjee Zeynep Şıklar Andrew Green Richard Caswell Maureen O'Sullivan Sian Ellard |
| Publication date | December 27, 2012 |
| Language | English |
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