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 journalArticlepeer-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 languageEnglish
Pages (from-to)311-314
Number of pages4
JournalBritish Journal of Haematology
Volume103
Issue number2
DOIs
Publication statusPublished - 1998

Keywords

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

ASJC Scopus subject areas

  • Hematology

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