Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

Anna Savoia Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, Trieste, ItalyCorrespondence[email protected]

Patrizia Noris Clinica Medica III, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy

Silverio Perrotta Department of Pediatrics, Second University of Naples, Naples, Italy

Francesca Punzo Department of Pediatrics, Second University of Naples, Naples, Italy; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands

Daniela De Rocco Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, Trieste, Italy

Ben A. Oostra Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands

Carlo L. Balduini Clinica Medica III, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy

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References

Balduini CL, Cattaneo M, Fabris F, Gresele P, Iolascon A, Savoia A. On behalf of the Italian “Gruppo di studio delle piastrine”. Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica 2003; 88: 582–592
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Morison IM, Cramer Borde EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, Weeks RJ, Lo A, Davies SM, Wilbanks SM, et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet 2008; 40: 387–389
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Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

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Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

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