• 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
Farida Latif, Kalman Tory, James R. Gnarra, Masahiro Yao, Fuh-Mei Duh, Mary Lou Orcutt, Thomas Stackhouse, Igor A. Kuzmin, William S. Modi, Laura Geil, Laura S. Schmidt ...Show all 33 authors... , Fang-Wei Zhou, Hua Li, Ming Hui Wei, Fan Chen, Gladys Glenn, Peter L. Choyke, McClellan Milton Walther, Yong-Kai Weng, Dah-Shuhn R. Duan, Michael Dean, Damjan Glavac, Frances M. Richards, Paul A. Crossey, Malcolm Andrew Ferguson-Smith, Denis Le Paslier, Ilya Chumakov, Daniel Cohen, Alan Craig Chinault, Eamonn R. Maher, William Marston Linehan, Berton Zbar, Michael I. Lerman; Show fewer authors
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Science 260:1317-1320(1993)

PubMed=7915601; DOI=10.1038/ng0594-85
James R. Gnarra, Kalman Tory, Yong-Kai Weng, Laura S. Schmidt, Ming Hui Wei, Hua Li, Farida Latif, Sue Liu, Fan Chen, Fuh-Mei Duh, Irina A. Lubensky ...Show all 24 authors... , Dah-Shuhn R. Duan, Charles Florence, Rudy Pozzatti, McClellan Milton Walther, Neil Harrison Bander, Herbert Barton Grossman, Hiltrud Brauch, Sigmund Pomer, James D. Brooks, William B. Isaacs, Michael I. Lerman, Berton Zbar, William Marston Linehan; Show fewer authors
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
McClellan Milton Walther, David E. Kleiner, Irina A. Lubensky, Rudy Pozzatti, Thai Nyguen, James R. Gnarra, Kathy Hurley, David Venzon, William Marston Linehan, William G. Stetler-Stevenson;
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)