Clinical utility gene card for: Hereditary thrombocythemia
| Autor: | Mary Frances McMullin, Melanie J. Percy, Sylvie Hermouet, Jiří Schwarz, Naomi Porret, Kais Hussein, Susanne Schnittger, Radek C. Skoda, Luz Maria Martinez-Aviles, Eric Lippert, Beatriz Bellosillo Paricio, Stéphane Giraudier, Holger Cario |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Genetics
Thrombocytosis medicine.diagnostic_test Essential thrombocythemia business.industry medicine.disease Penetrance Sensitivity and Specificity Diagnosis Differential Clinical Utility Gene Card medicine Humans Genetic Testing Differential diagnosis business THROMBOCYTHEMIA 2 Hereditary thrombocythemia Gene Genetics (clinical) Genetic testing |
| Popis: | 1.2 OMIM# of the disease 187950 (Thrombocythemia 1/THCYT1, autosomal dominant); 601977 (thrombocythemia 2/THCYT2, autosomal dominant and autosomal recessive); 614521 (thrombocythemia 3/THCYT3, autosomal dominant with incomplete penetrance); 300331 (thrombocythemia, X-linked, THCYTX, autosomal recessive). Note that the OMIM designation of the thrombocythemia types have been changed in 2012 following ‘erythrocytosis, familial 1–4 (ECYT1-4)’: 187950 was formerly ‘essential thrombocythemia’ (now THCYT1) and 601977 was formerly ‘benign familial microcytic thrombocytosis’ (now THCYT2). |
| Databáze: | OpenAIRE |
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