Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. [electronic resource]
Producer: 20140730Description: 117-28 p. digitalISSN:- 1098-1004
- Adult
- Aged
- Aged, 80 and over
- Caffeine
- Carcinoma, Basal Cell -- epidemiology
- Carcinoma, Squamous Cell -- epidemiology
- Cells, Cultured
- DNA Repair
- DNA-Directed DNA Polymerase -- genetics
- Female
- Fibroblasts -- metabolism
- Genetic Variation
- Genotype
- Humans
- Male
- Melanoma -- epidemiology
- Middle Aged
- Models, Molecular
- Mutation, Missense
- Phenotype
- Protein Stability
- Retrospective Studies
- Skin Neoplasms -- epidemiology
- Ultraviolet Rays
- Xeroderma Pigmentosum -- complications
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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