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 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.
authors.affiliation: Institute of Histology and Embryology, University of Bologna, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Strippoli
authors.forename: A
authors.initials: A
authors.lastname: Savoia
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: R
authors.initials: R
authors.lastname: Tonelli
authors.forename: M
authors.initials: M
authors.lastname: Savino
authors.forename: P
authors.initials: P
authors.lastname: Giordano
authors.forename: M
authors.initials: M
authors.lastname: D'Avanzo
authors.forename: F
authors.initials: F
authors.lastname: Massolo
authors.forename: F
authors.initials: F
authors.lastname: Locatelli
authors.forename: C
authors.initials: C
authors.lastname: Borgna
authors.forename: D
authors.initials: D
authors.lastname: De Mattia
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: G
authors.initials: G
authors.lastname: Paolucci
authors.forename: G P
authors.initials: GP
authors.lastname: Bagnara
mesh_terms: D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics*
chemical_list: D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human