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Article

Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.

The Journal of biological chemistry - 4 Oct 1996

Nichols A F, Ong P, Linn S

Abstract excerpt

The activity of a damage-specific DNA-binding protein (DDB) is absent from a subset, Ddb-, of cell strains from patients with xeroderma pigmentosum group E (XP-E). DDB is a heterodimer of 127-kDa and 48-kDa subunits. We have now identified single-base mutations in the gene of the 48-kDa subunit i...

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Identifiers

PMID: 8798680
DOI: 10.1074/jbc.271.40.24317

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8798680-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.PMID 8798680Read ↗

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Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.Semantic proximity Read ↗

p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity.Semantic proximity Read ↗

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