• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Ser183Ter (c.548C>A); ClinVar=VCV000002215; Zygosity=Unspecified (PubMed=7915601; PubMed=8493574).
  

PubMed=8493574; DOI=10.1126/science.8493574
Latif F., Tory K., Gnarra J.R., Yao M., Duh F.-M., Orcutt M.L., Stackhouse T., Kuzmin I.A., Modi W., Geil L., Schmidt L.S., Zhou F.-W., Li H., Wei M.H., Chen F., Glenn G., Choyke P., Walther M.M., Weng Y.-K., Duan D.-S.R., Dean M., Glavac D., Richards F.M., Crossey P.A., Ferguson-Smith M.A., Le Paslier D., Chumakov I., Cohen D., Chinault A.C., Maher E.R., Linehan W.M., Zbar B., Lerman M.I.
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Science 260:1317-1320(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)