• Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Homozygous (PubMed=9365237; PubMed=10543396).
  

PubMed=9365237; DOI=10.1038/sj.onc.1201377
Tahara H., Tokutake Y., Maeda S., Kataoka H., Watanabe T., Satoh M., Matsumoto T., Sugawara M., Ide T., Goto M., Furuichi Y., Sugimoto M.
Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus.
Oncogene 15:1911-1920(1997)

PubMed=9503605; DOI=10.1046/j.1432-0436.1998.6240203.x
Kataoka H., Tahara H., Watanabe T., Sugawara M., Ide T., Goto M., Furuichi Y., Sugimoto M.
Immortalization of immunologically committed Epstein-Barr virus-transformed human B-lymphoblastoid cell lines accompanied by a strong telomerase activity.
Differentiation 62:203-211(1997)

PubMed=10543396; DOI=10.1007/s004399900151
Goto M., Yamabe Y., Shiratori M., Okada M., Kawabe T., Matsumoto T., Sugimoto M., Furuichi Y.
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.
Hum. Genet. 105:301-307(1999)