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Article

Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.

Journal of dermatological science - 1 Oct 2008

Saito Masataka, Masunaga Takuji, Teraki Yuichi, Takamori Kenji, Ishiko Akira

Abstract excerpt

BACKGROUND: General genotype-phenotype correlations have been delineated in recessive dystrophic epidermolysis bullosa (RDEB), but these remain complicated and it is still difficult to assess the clinical consequences of individual COL7A1 mutations. OBJECTIVE: To characterize recurrent p.Glu2857X mutations and show how other COL7A1 mutations influence the phenotype in RDEB patients harboring p.Glu2857X. METHODS:...

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PMID: 18440202
DOI: 10.1016/j.jdermsci.2008.03.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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