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Fig. 1 | Thrombosis Journal

Fig. 1

From: De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD

Fig. 1

Clinical and laboratory studies as well as amplification refractory mutation system-qPCR(ARMS-qPCR) examination of a family of type 2A VWD with somatic mosaicism of the VWD gene mutation. The father carrying a mutated VWF gene transmitted this mutation to his offspring except the elder son. The father had normal VWF level and experienced no abnormal bleeding but all his offspring who inherited the mutation showed abnormal laboratory findings of type 2A VWD and all had histories of abnormal bleeding. The results of ARMS-qPCR showed that father had only 25.5 % mutant in his blood cells and 31.1 % mutant in his oral mucosal cells. However, all of his offspring had about 49 % mutant in their blood cells. The arrow indicates the C/T substitution

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