• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Arg120Lysfs*39 (c.359del); Zygosity=Unspecified (PubMed=7915601).
  

PubMed=479762; DOI=10.1084/jem.150.3.564; PMCID=PMC2185656
Ueda R., Shiku H., Pfreundschuh M., Takahashi T., Li L.T.C., Whitmore W.F. Jr., Oettgen H.F., Old L.J.
Cell surface antigens of human renal cancer defined by autologous typing.
J. Exp. Med. 150:564-579(1979)

PubMed=6946460; DOI=10.1073/pnas.78.8.5122; PMCID=PMC320345
Ueda R., Ogata S.-i., Morrissey D.M., Finstad C.L., Szkudlarek J., Whitmore W.F. Jr., Oettgen H.F., Lloyd K.O., Old L.J.
Cell surface antigens of human renal cancer defined by mouse monoclonal antibodies: identification of tissue-specific kidney glycoproteins.
Proc. Natl. Acad. Sci. U.S.A. 78:5122-5126(1981)

PubMed=6864164; DOI=10.1084/jem.158.1.53; PMCID=PMC2187084
Houghton A.N., Brooks H., Cote R.J., Taormina M.C., Oettgen H.F., Old L.J.
Detection of cell surface and intracellular antigens by human monoclonal antibodies. Hybrid cell lines derived from lymphocytes of patients with malignant melanoma.
J. Exp. Med. 158:53-65(1983)

PubMed=6582512; DOI=10.1073/pnas.81.2.568; PMCID=PMC344720
Mattes M.J., Cordon-Cardo C., Lewis J.L. Jr., Old L.J., Lloyd K.O.
Cell surface antigens of human ovarian and endometrial carcinoma defined by mouse monoclonal antibodies.
Proc. Natl. Acad. Sci. U.S.A. 81:568-572(1984)

PubMed=2386958
Ebert T., Bander N.H., Finstad C.L., Ramsawak R.D., Old L.J.
Establishment and characterization of human renal cancer and normal kidney cell lines.
Cancer Res. 50:5531-5536(1990)

PubMed=7915601; DOI=10.1038/ng0594-85
Gnarra J.R., Tory K., Weng Y.-K., Schmidt L.S., Wei M.H., Li H., Latif F., Liu S., Chen F., Duh F.-M., Lubensky I.A., Duan D.-S.R., Florence C., Pozzatti R., Walther M.M., Bander N.H., Grossman H.B., Brauch H., Pomer S., Brooks J.D., Isaacs W.B., Lerman M.I., Zbar B., Linehan W.M.
Mutations of the VHL tumour suppressor gene in renal carcinoma.
Nat. Genet. 7:85-90(1994)