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Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree with Xeroderma Pigmentosum, Variant Type
Xeroderma pigmentosum-variant (XPV) is one type of XP, a rare autosomal recessive disorder, and caused by defects in the post replication repair machinery while nucleotide-excision repair (NER) is not impaired. In the present study, we reported a Chinese family with XPV phenotype, which was confirme...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Ivyspring International Publisher
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638301/ https://www.ncbi.nlm.nih.gov/pubmed/23630442 http://dx.doi.org/10.7150/ijms.6095 |