• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Gly104Alafs*55 (c.309delT); ClinVar=VCV000223180; Zygosity=Unspecified (PubMed=7915601).
  

PubMed=1345811
Anglard P., Trahan E.E. Jr., Liu S., Latif F., Merino M.J., Lerman M.I., Zbar B., Linehan W.M.
Molecular and cellular characterization of human renal cell carcinoma cell lines.
Cancer Res. 52:348-356(1992)

PubMed=8319216
Reiter R.E., Anglard P., Liu S., Gnarra J.R., Linehan W.M.
Chromosome 17p deletions and p53 mutations in renal cell carcinoma.
Cancer Res. 53:3092-3097(1993)

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)

PubMed=9255309; DOI=10.1016/S0090-4295(97)00220-3
Walther M.M., Kleiner D.E., Lubensky I.A., Pozzatti R., Nyguen T., Gnarra J.R., Hurley K., Venzon D., Linehan W.M., Stetler-Stevenson W.G.
Progelatinase A mRNA expression in cell lines derived from tumors in patients with metastatic renal cell carcinoma correlates inversely with survival.
Urology 50:295-301(1997)

PubMed=10723130; DOI=10.1038/sj.onc.1203449
Alimov A., Kost-Alimova M., Liu J., Li C.-D., Bergerheim U.S.R., Imreh S., Klein G., Zabarovsky E.R.
Combined LOH/CGH analysis proves the existence of interstitial 3p deletions in renal cell carcinoma.
Oncogene 19:1392-1399(2000)

PubMed=12759923; DOI=10.1002/gcc.10209
Pavlovich C.P., Padilla-Nash H.M., Wangsa D., Nickerson M.L., Matrosova V., Linehan W.M., Ried T., Phillips J.L.
Patterns of aneuploidy in stage IV clear cell renal cell carcinoma revealed by comparative genomic hybridization and spectral karyotyping.
Genes Chromosomes Cancer 37:252-260(2003)