• Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Arg528His (c.1583G>A); ClinVar=VCV000012511; Zygosity=Homozygous (PubMed=9927040).
  

PubMed=8385345; DOI=10.1073/pnas.90.7.2846; PMCID=PMC46193
Kelly J. Smith, Karen Audrey Johnson, Tracy M. Bryan, David E. Hill, Sanford David Markowitz, James K.V. Willson, Christos Paraskeva, Gloria Moy Petersen, Stanley R. Hamilton, Bert Vogelstein, Kenneth Wayne Kinzler;
The APC gene product in normal and tumor cells.
Proc. Natl. Acad. Sci. U.S.A. 90:2846-2850(1993)

PubMed=7824277
James Richard Eshleman, Evan Z. Lang, Gordana K. Bowerfind, Ramon Parsons, Bert Vogelstein, James K.V. Willson, Martina L. Veigl, Wallace David Sedwick, Sanford David Markowitz;
Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer.
Oncogene 10:33-37(1995)

PubMed=9927040
William M. Grady, Lois Lemmermann Myeroff, Sandra E. Swinler, Ashwani Rajput, Sam Thiagalingam, James D. Lutterbaugh, Aaron Neumann, Michael G. Brattain, Jay Chang, Seong-Jin Kim, Kenneth Wayne Kinzler ...Show all 14 authors... , Bert Vogelstein, James K.V. Willson, Sanford David Markowitz; Show fewer authors
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.
Cancer Res. 59:320-324(1999)

PubMed=11314036; DOI=10.1038/sj.onc.1204211
Eva Forgacs, Jonathan D. Wren, Craig Kamibayashi, Masashi Kondo, Xie L. Xu, Sanford David Markowitz, Gail E. Tomlinson, Carolyn Y. Muller, Adi F. Gazdar, Harold Ray Garner, John D. Minna;
Searching for microsatellite mutations in coding regions in lung, breast, ovarian and colorectal cancers.
Oncogene 20:1005-1009(2001)