• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Glu306Ter (c.916G>T); ClinVar=VCV000005887; Zygosity=Unspecified (PubMed=10385124).
  

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=7830260; DOI=10.1269/jrr.35.168
Kayo Fujikawa, Hitoshi Ayaki, Kanji Ishizaki, Hiroshi Takatera, Shinobu Matsuo, Hajime Iizuka, Hiroko Koizumi, Mituo Ikenaga;
Assignment of six patients with xeroderma pigmentosum in Hokkaido area to a variant form.
J. Radiat. Res. 35:168-178(1994)

PubMed=10385124; DOI=10.1038/21447
Chikahide Masutani, Rika Kusumoto, Ayumi Yamada, Naoshi Dohmae, Masayuki Yokoi, Mayumi Yuasa, Marito Araki, Shigenori Iwai, Koji Takio, Fumio Hanaoka;
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
Nature 399:700-704(1999)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Toshiki Itoh, Stuart M. Linn, Tomomichi Ono, Masaru Yamaizumi;
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)

PubMed=29892436; DOI=10.1098/rsos.172472; PMCID=PMC5990783
Setsuko Shioda, Fumio Kasai, Ken Watanabe, Kohei Kawakami, Azusa Ohtani, Masashi Iemura, Midori Ozawa, Akemi Arakawa, Noriko Hirayama, Eiko Kawaguchi, Tomoko Tano, Sayaka Miyata, Motonobu Satoh ...Show all 15 authors... , Norio Shimizu, Arihiro Kohara; Show fewer authors
Screening for 15 pathogenic viruses in human cell lines registered at the JCRB Cell Bank: characterization of in vitro human cells by viral infection.
R. Soc. Open Sci. 5:172472-172472(2018)