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 language | English |
|---|---|
| Pages (from-to) | 311-314 |
| Number of pages | 4 |
| Journal | British Journal of Haematology |
| Volume | 103 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1998 |
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Keywords
- Congenital
- Megakaryocytopoiesis
- Mutational screening
- Thrombocytopenia absent radii syndrome
- TPO-c-mpl system
ASJC Scopus subject areas
- Hematology
Cite this
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). / 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.
In: British Journal of Haematology, Vol. 103, No. 2, 1998, p. 311-314.Research output: Contribution to journal › Article
}
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 - 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 - Bagnara, Gian Paolo
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - Congenital
KW - Megakaryocytopoiesis
KW - Mutational screening
KW - Thrombocytopenia absent radii syndrome
KW - TPO-c-mpl system
UR - http://www.scopus.com/inward/record.url?scp=7844223621&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=7844223621&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2141.1998.00991.x
DO - 10.1046/j.1365-2141.1998.00991.x
M3 - Article
C2 - 9827898
AN - SCOPUS:7844223621
VL - 103
SP - 311
EP - 314
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 2
ER -