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

Platelets

Volumn 20, Issue 1, 2009, Pages 72-73

  Savoia, Anna ^a   Noris, Patrizia ^b   Perrotta, Silverio ^c   Punzo, Francesca ^c,d   Rocco, Daniela De ^a   Oostra, Ben A ^d   Balduini, Carlo L ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C;

5' UNTRANSLATED REGION; ADULT; COHORT ANALYSIS; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; ITALY; LETTER; MAJOR CLINICAL STUDY; MALE; MEGAKARYOPOIESIS; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; THROMBOCYTE STRUCTURE;

ADULT; BLOOD PLATELETS; CELL SIZE; COHORT STUDIES; CYTOCHROMES C; FEMALE; GENETIC SCREENING; HUMANS; ITALY; MALE; MUTATION; PLATELET COUNT; THROMBOCYTOPENIA;

EID: 61649121550     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100802485129     Document Type: Letter

References (4)

1. 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.
2. Noris P, Pecci A, Di Bari F, Di Stazio M, Di Pumpo M, Ceresa IF, Arezzi N, Ambaglio C, Savoia A, Balduini CL. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 2004;89:1219-1225.
3. Geddis AE, Balduini CL. Diagnosis of immune thrombocytopenic purpura in children. Curr Opin Hematol 2007;14:520-525.
4. 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.