Calreticulin gene exon 9 frameshift mutations in patients with thrombocytosis
نویسندگان
چکیده
منابع مشابه
Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms
BACKGROUND Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics. METHODS A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutatio...
متن کاملClinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis.
Donatella Colaizzo1; Lucio Amitrano2; Maria Anna Guardascione2; Giovanni Favuzzi1; Giovanni Luca Tiscia1; Giovanna D’Andrea3; Rosa Santacroce3; Elvira Grandone1; Maurizio Margaglione3 1Unita’ di Aterosclerosi e Trombosi, I. R. C. C. S. „Casa Sollievo della Sofferenza“, S. Giovanni Rotondo, Italy; 2Divisione di Gastroenterologia, Ospedale “A. Cardarelli”, Napoli, Italy; 3Genetica Medica, Univers...
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Background & Aims: Thyroid cancer is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) is an aggressive malignant tumor arising from parafollicular cells of the thyroid. MTC occurs in hereditary (25%, hMTC) or sporadic (75%, sMTC) forms. The hMTC form has an autosomal dominant inheritance. RET proto-oncogene mutations, especially the 10, 11, and 16 exones, are associated w...
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Mutations disrupting the function or production of C1 inhibitor cause the disease hereditary angioneurotic edema. Patient mutations identified an imperfect inverted repeat sequence that was postulated to play a mechanistic role in the mutations. To test this hypothesis, the inverted repeat was cloned into the chloramphenicol acetyltransferase gene in pBR325 and its mutation rate was studied in ...
متن کاملInvestigation of mutations in Exon 7,8 and Exon 9 of FHIT Gene in laryngeal squamous cell carcinoma
The purpose of this study was to assess and explain the relationship between molecular changes occurring in squamous cell laryngeal carcinoma. Furthermore, we were revealed the role of FHIT gene response in the development and progression of squamous cell laryngeal carcinoma, and genes based exons 7,8 and 9 in tumour stage and histopathologic grade. In this study was used 50 blood samples for c...
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ژورنال
عنوان ژورنال: Leukemia
سال: 2013
ISSN: 0887-6924,1476-5551
DOI: 10.1038/leu.2013.382