Mutational screening of thrombopoietin receptor gene (c‐mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
1998; Wiley; Volume: 103; Issue: 2 Linguagem: Inglês
10.1046/j.1365-2141.1998.00991.x
ISSN1365-2141
AutoresPierluigi Strippoli, Anna Savoia, Achille Iolascon, Roberto Tonelli, Michelangelo Savino, Paola Giordano, Michele D’Avanzo, F Massolo, Franco Locatelli, Caterina Borgna, Domenico De Mattia, Leopoldo Zelante, G Paolucci, Gian Paolo Bagnara,
Tópico(s)Blood groups and transfusion
ResumoThrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c‐mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c‐mpl gene mutations are not a common cause of thrombocytopenia in TAR syndrome.
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