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Article

Codominance associated with overexpression of certain XPD mutations.

Mutation research - 7 Mar 2001

Kadkhodayan S, Coin F, Salazar E P, George J W, Egly J M, Thompson L H

Abstract excerpt

Mutations in the XPD gene are associated with three complex clinical phenotypes, namely xeroderma pigmentosum (XP), XP in combination with Cockayne syndrome (XP-CS), and trichothiodystrophy (TTD). XP is caused by a deficiency in nucleotide excision repair (NER) that results in a high risk of skin cancer. TTD is characterized by severe developmental and neurological defects, with hallmark features of brittle hair...

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Identifiers

PMID: 11182546
DOI: 10.1016/s0921-8777(00)00077-x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Codominance associated with overexpression of certain XPD mutations.PMID 11182546Read ↗

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