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Fig. 5 | BMC Medical Genomics

Fig. 5

From: A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study

Fig. 5

(A) The family pedigree is depicted. The proband (shown by arrow, II2) was homozygous for the NM_004415.4:c.8586delC. Her brother (II1) died suddenly during exercise and was also homozygous for the same variant. The proband’s parents (I1 and I2) were found heterozygous for the same variant. Circle = female. Square = male. Filled symbols = affected individuals. (B) Electropherogram of the involved sequence fragment of the DSP for the members of the family

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BMC Medical Genomics

ISSN: 1755-8794

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