Kata Martinova

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Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to malignancy. The gene responsible for the disease, NBS1, is located on chromosome 8q21 and encodes a protein called nibrin. After identification of the gene, a(More)
Thrombotic thrombocytopenic purpura (TTP) is a rare disease with an untreated mortality rate of 90%. The disease consists of the pentad of microangiopatic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever and renal failure. TTP, inherited or autoimmune, is mainly caused by the plasma deficiency of the von Wilebrand factor cleaving(More)
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