An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p
Tài liệu tham khảo
Bellucci, 1997, Megakaryocytes and inherited thrombocytopenias, Bailliere Clin Haematol, 10, 149, 10.1016/S0950-3536(97)80055-8
Bithell, 1965, Thrombocytopenia inherited as an autosomal dominant trait, Blood, 25, 231, 10.1182/blood.V25.2.231.231
Breton-Gorius, 1995, A new congenital dysmegakaryocytopoietic thrombocytopenia (Pris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23, Blood, 85, 1805, 10.1182/blood.V85.7.1805.bloodjournal8571805
Derry, 1994, Isolation of a novel gene mutated in Wiskott-Aldrich syndrome, Cell, 78, 635, 10.1016/0092-8674(94)90528-2
Dowton, 1985, Studies of a familial platelet disorder, Blood, 65, 557, 10.1182/blood.V65.3.557.557
Fabris, 1997, Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder, Eur J Haematol, 58, 40, 10.1111/j.1600-0609.1997.tb01408.x
Ho, 1996, Linkage of a familial platelet disorder with propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2, Blood, 87, 5218, 10.1182/blood.V87.12.5218.bloodjournal87125218
Iolascon A, Perrotta S, Amendola G, Altomare M, Bagnara GP, Del Vecchio ME, Savoia A (1999) Familial dominant thrombocytopenia: clinical, biological and molecular studies. Pediatr Res (in press)
Lathrop, 1984, Strategies for multilocus linkage analysis in humans, Proc Natl Acad Sci USA, 81, 3443, 10.1073/pnas.81.11.3443
Majado, 1992, Effective splenectomy in familial isolated thrombocytopenia, Am J Hematol, 39, 70, 10.1002/ajh.2830390117
Najean, 1990, Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases, Br J Haematol, 74, 203, 10.1111/j.1365-2141.1990.tb02566.x
Najean, 1995, Hereditary thrombocytopenias in childhood, Semin Thromb Hemost, 21, 294, 10.1055/s-2007-1000650
Savoia, 1996, Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters, Hum Genet, 97, 599, 10.1007/BF02281868
Strippoli, 1998, Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR), Br J Haematol, 103, 311, 10.1046/j.1365-2141.1998.00991.x
Villa, 1995, X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene, Nat Genet, 9, 414, 10.1038/ng0495-414