Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

doi:10.1093/hmg/3.6.963

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Article

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

Human molecular genetics - 1 Jun 1994

Nouspikel T, Clarkson S G

Abstract excerpt

The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5. Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125L...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cell Line
Cell Survival
DNA Primers
DNA Repair
DNA-Binding Proteins
Endonucleases
Female
Homozygote
Humans
Male
Molecular Sequence Data
Nuclear Proteins
Point Mutation
Polymorphism, Genetic
Transcription Factors

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