• 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
Hidetoshi Tahara, Yoshiki Tokutake, Shizuko Maeda, Hiroshi Kataoka, Taro Watanabe, Misako Satoh, Takehisa Matsumoto, Minoru Sugawara, Toshinori Ide, Makoto Goto, Yasuhiro Furuichi, Masanobu Sugimoto;
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
Hiroshi Kataoka, Hidetoshi Tahara, Taro Watanabe, Minoru Sugawara, Toshinori Ide, Makoto Goto, Yasuhiro Furuichi, Masanobu Sugimoto;
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
Makoto Goto, Yukako Yamabe, Miwa Shiratori, Masako Okada, Tamae Kawabe, Takehisa Matsumoto, Masanobu Sugimoto, Yasuhiro Furuichi;
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.
Hum. Genet. 105:301-307(1999)