Compound heterozygous mutations in the noncoding RNU4ATAC...

Nature Communications 2015 / 11 Vol. 6

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Pa
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Volume:
6
Language:
english
Journal:
Nature Communications
DOI:
10.1038/ncomms9718
Date:
November, 2015
File:
PDF, 819 KB
english, 2015
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