ArticleClinical, cosmetic and investigational dermatology2026
A Novel R799X Mutation of
Article in Clinical, cosmetic and investigational dermatology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Hailey-Hailey disease (HHD) is an autosomal dominantly inherited blistering dermatosis caused by mutations in the Methods: We collected a four-generation Chinese HHD family with 6 affected patients. Genomic DNA was isolated from family members and a matched control cohort. All 27 exons and flanking intronic sequences of the Results: A novel heterozygous nonsense mutation, c.2395C>T (p.R799X), was identified in exon 25 of the Conclusion: This finding expands the mutation spectrum of
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