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3. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. van den Oudenrijn S; Bruin M; Folman CC; Peters M; Faulkner LB; de Haas M; von dem Borne AE Br J Haematol; 2000 Aug; 110(2):441-8. PubMed ID: 10971406 [TBL] [Abstract][Full Text] [Related]
4. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Ballmaier M; Germeshausen M; Schulze H; Cherkaoui K; Lang S; Gaudig A; Krukemeier S; Eilers M; Strauss G; Welte K Blood; 2001 Jan; 97(1):139-46. PubMed ID: 11133753 [TBL] [Abstract][Full Text] [Related]
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9. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Geddis AE Hematol Oncol Clin North Am; 2009 Apr; 23(2):321-31. PubMed ID: 19327586 [TBL] [Abstract][Full Text] [Related]
10. Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. Tijssen MR; di Summa F; van den Oudenrijn S; Zwaginga JJ; van der Schoot CE; Voermans C; de Haas M Br J Haematol; 2008 Jun; 141(6):808-13. PubMed ID: 18422784 [TBL] [Abstract][Full Text] [Related]
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13. [From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. van den Oudenrijn S; Bruin M; de Haas M; von dem Borne AE Ned Tijdschr Geneeskd; 2002 Mar; 146(10):469-71. PubMed ID: 11913111 [TBL] [Abstract][Full Text] [Related]
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18. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Savoia A; Dufour C; Locatelli F; Noris P; Ambaglio C; Rosti V; Zecca M; Ferrari S; di Bari F; Corcione A; Di Stazio M; Seri M; Balduini CL Haematologica; 2007 Sep; 92(9):1186-93. PubMed ID: 17666371 [TBL] [Abstract][Full Text] [Related]
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20. A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. Chung HS; Koh KN; Kim HJ; Kim HJ; Lee KO; Park CJ; Chi HS; Kim SH; Seo JJ; Im HJ Pediatr Blood Cancer; 2011 Feb; 56(2):304-6. PubMed ID: 21162090 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]