Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Genome Medicine2013Vol. 5(7), pp. 67–67
Citations Over TimeTop 10% of 2013 papers
Kai Wang, Cecilia Kim, Jonathan P. Bradfield, Yunfei Guo, Elina Toskala, F. George Otieno, Cuiping Hou, Kelly Thomas, Christopher J. Cardinale, Gholson J. Lyon, Ryan Golhar, Håkon Håkonarson
Abstract
While the exact mechanism by which these mutations cause disease is unknown, our study represents an example of how the combined use of whole-genome DNA and RNA sequencing can identify a disease-predisposing gene for a novel and extremely rare Mendelian disease.
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