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Fig. 2 | BMC Genetics

Fig. 2

From: The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Fig. 2

Direct sequencing of the CYLD gene. Direct sequencing revealed a nonsense mutation (c.2272C/T, p.R758X) in exon 17. a The affected family members carried the deletion in heterozygous form. b The unaffected family members carried the wild-type sequence. c The mutation is located in the region of the ubiquitin-specific protease domain of the CYLD protein

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BMC Genomic Data

ISSN: 2730-6844

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