A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/content/pdf/10.1007/s12185-014-1545-7.pdf
Reference16 articles.
1. Kaikov Y, Wadsworth LD, Hall CA, Rogers PC. Transcobalamin II deficiency: case report and review of the literature. Eur J Pediatr. 1991;150:841–3.
2. Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118:4041–52.
3. Weitzman S. Approach to hemophagocytic syndromes. Hematology Am Soc Hematol Educ Program. 2011;178–83.
4. Regec A, Quadros EV, Platica O, Rothenberg SP. The cloning and characterization of the human transcobalamin II gene. Blood. 1995;85:2711–9.
5. Haberle J, Pauli S, Berning C, Koch HG, Linnebank M. TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. J Hum Genet. 2009;54:331–4.
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