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Article

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.

American journal of human genetics - 1 Feb 1994

Vermeulen W, Scott R J, Rodgers S, Müller H J, Cole J, Arlett C F, Kleijer W J, Bootsma D, Hoeijmakers J H, Weeda G

Abstract excerpt

The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group B. In addition to its function in NER, the ERCC3 DNA helicase was recently identified as one of the components of the human BTF2/TFIIH transcription factor complex, which is required for initiation of transcription of class II genes. To date, a single...

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Identifiers

PMID: 8304337
PMCID: PMC1918172

Genes

ERCC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.PMID 8304337Read ↗

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