• Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Homozygous (PubMed=22466610).
  

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Fujiwara Y., Satoh Y.
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=4011712; DOI=10.1111/j.1751-1097.1985.tb03538.x
Fujiwara Y., Uehara Y., Ichihashi M., Nishioka K.
Xeroderma pigmentosum complementation group F: more assignments and repair characteristics.
Photochem. Photobiol. 41:629-634(1985)

PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021
Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D.
Arch. Dermatol. 124:256-260(1988)

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

PubMed=1376435; DOI=10.1016/0921-8777(92)90049-9
Keeney S.N., Wein H., Linn S.M.
Biochemical heterogeneity in xeroderma pigmentosum complementation group E.
Mutat. Res. 273:49-56(1992)

PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Itoh T., Linn S.M., Ono T., Yamaizumi M.
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=22466610; DOI=10.1038/ng.2229
Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.-i., Ogi T.
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat. Genet. 44:586-592(2012)