The 253‐kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3
Pediatric Blood & Cancer2014Vol. 61(6), pp. 1034–1040
Citations Over TimeTop 16% of 2014 papers
Yaping Qian, Judith A. Johnson, Jessica Connor, C. Alexander Valencia, Nathaniel Barasa, Jeffery Schubert, Ammar Husami, Diane Kissell, Ge Zhang, Matthew T. Weirauch, Alexandra H. Filipovich, Kejian Zhang
Abstract
These specified non-coding mutations were found in a significant number of North American patients and inclusion of them in mutation analysis will improve the molecular diagnosis of FHL3.
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