Article
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).
British journal of haematology - 1 Nov 1998
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
Abstract excerpt
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...
Topics
- Adolescent
- Child
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Male
- Mutation
- Neoplasm Proteins
- Polymerase Chain Reaction
- Proto-Oncogene Proteins
- Radius
- Receptors, Cytokine
- Receptors, Thrombopoietin