• 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 ...Show all 15 authors... , Sayaka Miyata, Motonobu Satoh, 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)