• Mutation; HGNC; HGNC:9181; POLH; Simple; p.Lys220fs (c.661_764del); Zygosity=Homozygous (PubMed=10398605).
  

PubMed=7263770; DOI=10.1002/jcp.1041080207
Cleaver J.E.
Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne's syndrome fibroblasts to inhibition by cytosine arabinoside.
J. Cell. Physiol. 108:163-173(1981)

PubMed=7326997; DOI=10.1159/000131646
Cleaver J.E., Greene A.E., Coriell L.L., Mulivor R.A.
Xeroderma pigmentosum variants.
Cytogenet. Cell Genet. 31:188-192(1981)

PubMed=7165374; DOI=10.1007/BF00403726
Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L., Jung E.G.
Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics.
Arch. Dermatol. Res. 274:229-247(1982)

PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7
Cleaver J.E.
DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.
Mech. Ageing Dev. 27:189-196(1984)

PubMed=2054785
Thielmann H.W., Popanda O., Edler L., Jung E.G.
Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.
Cancer Res. 51:3456-3470(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10398605; DOI=10.1126/science.285.5425.263
Johnson R.E., Kondratick C.M., Prakash S., Prakash L.
hRAD30 mutations in the variant form of xeroderma pigmentosum.
Science 285:263-265(1999)