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Mutational screening of thrombopoietin receptor gene (c‐mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
Author(s) -
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
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00991.x
Subject(s) - thrombopoietin , thrombopoietin receptor , gene , medicine , genetics , tar (computing) , biology , haematopoiesis , stem cell , computer science , programming language
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.