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Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 1, p. 86, doi. 10.1111/j.0022-202X.2005.23745.x
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- Article
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
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- Article
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 4, p. e31
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- Article
Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2539, doi. 10.1093/hmg/10.22.2539
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- Article