Xiaoyan Liu Xianning Zhang Jianjun Qiao Hong Fang
10.7150/ijms.6095
Int J Med Sci
2013 Apr 21;10(6):766-70.
polh xeroderma pigmentosum
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/23630442/
Codon, Nonsense DNA-Directed DNA Polymerase / genetics Skin Neoplasms / genetics Xeroderma Pigmentosum / genetics
Codon, Nonsense DNA-Directed DNA Polymerase / genetics Skin Neoplasms / genetics Xeroderma Pigmentosum / genetics Case Reports Research Support, Non-U.S. Gov't Adult China Female Humans Male Pedigree Skin Neoplasms / pathology Xeroderma Pigmentosum / pathology Codon, Nonsense DNA-Directed DNA Polymerase Rad30 protein
PMC3638301
23630442
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type
2013