Documentos relacionados

1. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
2. Sunlight, Vitamin D, and Xeroderma Pigmentosum.
3. Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
4. Deep intronic founder mutations identified in the <i>ERCC4</i>/<i>XPF</i> gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
5. Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
6. Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
7. Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
8. A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.
9. A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.
10. Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors.