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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

scientific article

Author/s

author: Feyza Darendeliler, Maureen O'Sullivan, Richard Caswell, Andrew Green, Sarah Flanagan, Michael N Weedon, Peter E. Clayton, Sian Ellard, Zeynep Şıklar, Nuala P Murphy, Indraneel Banerjee

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Work details

Publication date
December 27, 2012
- -
Language
English

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