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; Mariachiara Savino; Paola Giordano; Michele D'Avanzo; Fausta Massolo; Franco Locatelli; Caterina Borgna; Domenico De Mattia; Leopoldo Zelante; Guido Paolucci; Giorgio 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, Mariachiara Savino, Paola Giordano, Michele D'Avanzo, Fausta Massolo, Franco Locatelli, Caterina Borgna, Domenico De Mattia, Leopoldo Zelante, Guido Paolucci, Giorgio Paolucci, Gian Paolo Bagnara

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic 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.

Lingua originale	English
pagine (da-a)	311-314
Numero di pagine	4
Rivista	British Journal of Haematology
Volume	103
DOI	https://doi.org/10.1046/j.1365-2141.1998.00991.x
Stato di pubblicazione	Pubblicato - 1998

Keywords

congenital
thrombocytopenia absent radii syndrome
mutational screening
TPO-c-mpl system
megakaryocytopoiesis

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10.1046/j.1365-2141.1998.00991.x

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Strippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Savino, M., Giordano, P., D'Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., De Mattia, D., Zelante, L., Paolucci, G., 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, 311-314. https://doi.org/10.1046/j.1365-2141.1998.00991.x

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

abstract = "Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic 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.",

keywords = "congenital, thrombocytopenia absent radii syndrome, mutational screening, TPO-c-mpl system, megakaryocytopoiesis, congenital, thrombocytopenia absent radii syndrome, mutational screening, TPO-c-mpl system, megakaryocytopoiesis",

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

year = "1998",

doi = "10.1046/j.1365-2141.1998.00991.x",

language = "English",

volume = "103",

pages = "311--314",

journal = "British Journal of Haematology",

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publisher = "John Wiley and Sons Inc.",

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Strippoli, P, Savoia, A, Iolascon, A, Tonelli, R, Savino, M, Savino, M, Giordano, P, D'Avanzo, M, Massolo, F, Locatelli, F, Borgna, C, De Mattia, D, Zelante, L, Paolucci, G, 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, pagg. 311-314. https://doi.org/10.1046/j.1365-2141.1998.00991.x

TY - JOUR

T1 - Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

AU - Strippoli, Pierluigi

AU - Savoia, Anna

AU - Iolascon, Achille

AU - Tonelli, Roberto

AU - Savino, Maria

AU - Savino, Mariachiara

AU - Giordano, Paola

AU - D'Avanzo, Michele

AU - Massolo, Fausta

AU - Locatelli, Franco

AU - Borgna, Caterina

AU - De Mattia, Domenico

AU - Zelante, Leopoldo

AU - Paolucci, Guido

AU - Paolucci, Giorgio

AU - Bagnara, Gian Paolo

PY - 1998

Y1 - 1998

N2 - Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic 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.

AB - Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic 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.

KW - congenital

KW - thrombocytopenia absent radii syndrome

KW - mutational screening

KW - TPO-c-mpl system

KW - megakaryocytopoiesis

KW - congenital

KW - thrombocytopenia absent radii syndrome

KW - mutational screening

KW - TPO-c-mpl system

KW - megakaryocytopoiesis

UR - http://hdl.handle.net/10807/264314

U2 - 10.1046/j.1365-2141.1998.00991.x

DO - 10.1046/j.1365-2141.1998.00991.x

M3 - Article

SN - 0007-1048

VL - 103

SP - 311

EP - 314

JO - British Journal of Haematology

JF - British Journal of Haematology

ER -

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

Abstract

Keywords

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