Article
X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations.
Blood - 25 Sept 2014
Allen Christopher, Lambert Jonathan R, Linch David C, Gale Rosemary E
Abstract excerpt
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential thrombocythemia (ET) lacking JAK2(V617F) or MPL mutations. They are associated with substantially different hematological and clinical features and define a distinct subtype of ET. We show here that their presence is significantly correlated with a clonal X chromosome inactivation pattern (XCIP). Of 105 female ET...
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