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Article

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

The Journal of experimental medicine - 21 Dec 2009

Ueda Takahiro, Compe Emmanuel, Catez Philippe, Kraemer Kenneth H, Egly Jean-Marc

Abstract excerpt

Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP). Many XP patients are compound heterozygotes with a "causative" XPD point mutation R683W and different second mutant alleles, considered "null alleles." However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological...

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Source

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Identifiers

PMID: 19934020
DOI: 10.1084/jem.20091892
PMCID: PMC2806454

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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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Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.PMID 19934020Read ↗

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