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Fig. 2 | Journal of Negative Results in BioMedicine

Fig. 2

From: Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src

Fig. 2

Localization of venous malformations on mucosal sides of the uper lip and results of direct sequencing of a part of intron 15 in germline and somatic DNA of the TEK gene. The patient with the malformation was diagnosed at the age of 11 years. No same cases have been identified in its first degree family. The representative electropherogram of the same TEK frameshift mutation (c.3025+20-3025+22 del) detected at the germline and somatic DNA level indicates a deletion of two nucleotides at the intron 15. The red box indicates the position of such deletion. Wild-type and mutant TEK DNA sequences are shown along. mt: mutant, VMCM: cutaneo-mucosal venous malformations. wt: wild-type

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