Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

Pierluigi Strippoli; Anna Savoia; Achille Iolascon; Roberto Tonelli; Maria Savino; Paola Giordano; Michele D'Avanzo; Fausta Massolo; Franco Locatelli; Caterina Borgna; Domenico De Mattia; Leopoldo Zelante; Guido Paolucci; Gian Paolo Bagnara

doi:10.1046/j.1365-2141.1998.00991.x

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

Pierluigi Strippoli, Anna Savoia, Achille Iolascon, Roberto Tonelli, Maria Savino, Paola Giordano, Michele D'Avanzo, Fausta Massolo, Franco Locatelli, Caterina Borgna, Domenico De Mattia, Leopoldo Zelante, Guido Paolucci, Gian Paolo Bagnara

Research output: Contribution to journal › Article › peer-review

Abstract

Thrombocytopenia 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.

Original language	English
Pages (from-to)	311-314
Number of pages	4
Journal	British Journal of Haematology
Volume	103
Issue number	2
DOIs	https://doi.org/10.1046/j.1365-2141.1998.00991.x
Publication status	Published - 1998

Keywords

Congenital
Megakaryocytopoiesis
Mutational screening
Thrombocytopenia absent radii syndrome
TPO-c-mpl system

ASJC Scopus subject areas

Hematology

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Strippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Giordano, P., D'Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., De Mattia, D., Zelante, L., Paolucci, G., & Bagnara, G. P. (1998). Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). British Journal of Haematology, 103(2), 311-314. https://doi.org/10.1046/j.1365-2141.1998.00991.x

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). / Strippoli, Pierluigi; Savoia, Anna; Iolascon, Achille; Tonelli, Roberto; Savino, Maria; Giordano, Paola; D'Avanzo, Michele; Massolo, Fausta; Locatelli, Franco; Borgna, Caterina; De Mattia, Domenico; Zelante, Leopoldo; Paolucci, Guido; Bagnara, Gian Paolo.

In: British Journal of Haematology, Vol. 103, No. 2, 1998, p. 311-314.

Research output: Contribution to journal › Article › peer-review

Strippoli, P, Savoia, A, Iolascon, A, Tonelli, R, Savino, M, Giordano, P, D'Avanzo, M, Massolo, F, Locatelli, F, Borgna, C, De Mattia, D, Zelante, L, Paolucci, G & Bagnara, GP 1998, 'Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)', British Journal of Haematology, vol. 103, no. 2, pp. 311-314. https://doi.org/10.1046/j.1365-2141.1998.00991.x

Strippoli, Pierluigi ; Savoia, Anna ; Iolascon, Achille ; Tonelli, Roberto ; Savino, Maria ; Giordano, Paola ; D'Avanzo, Michele ; Massolo, Fausta ; Locatelli, Franco ; Borgna, Caterina ; De Mattia, Domenico ; Zelante, Leopoldo ; Paolucci, Guido ; Bagnara, Gian Paolo. / Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). In: British Journal of Haematology. 1998 ; Vol. 103, No. 2. pp. 311-314.

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AU - Tonelli, Roberto

AU - Savino, Maria

AU - Giordano, Paola

AU - D'Avanzo, Michele

AU - Massolo, Fausta

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