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Fig. 3 | BMC Medical Genomics

Fig. 3

From: X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene

Fig. 3

Sanger sequencing was performed in the 8 male patients and their respective mothers. The Sanger sequencing profile showed a deletion of 13 base pairs, in the 8 patients (P), that seems to be a new pathogen variant c.353_365del:(p.F118X) within the exon 4 of the STS gene resulting in a premature stop codon compared to their mothers (M) and to a healthy control (C) whose didn’t showed the deletion even at the heterozygous state

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BMC Medical Genomics

ISSN: 1755-8794

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