Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

Published 2012 View Full Article

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Title
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 92, Issue 1, Pages 131-136
Publisher
Elsevier BV
Online
2012-12-27
DOI
10.1016/j.ajhg.2012.11.017

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