• Mutation; HGNC; HGNC:12687; VHL; Simple; c.341-2A>T; ClinVar=VCV002034796; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=7915601).
  

PubMed=7915601; DOI=10.1038/ng0594-85
James R. Gnarra, Kalman Tory, Yong-Kai Weng, Laura S. Schmidt, Ming Hui Wei, H. Li, Farida Latif, S. 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=8086765; DOI=10.1007/BF00252823
Andreas J. Gross, Michael Wolff, Joachim Fandrey, Wulf-Dietrich Ekkehard Miersch, Klaus-Peter Dieckmann, Wolfgang Jelkmann;
Prevalence of paraneoplastic erythropoietin production by renal cell carcinomas.
Clin. Investig. 72:337-340(1994)

PubMed=10190320; DOI=10.1007/s004320050252
Markus H. Frank, Sigmund Pomer;
Interferon alpha2b differentially affects proliferation of two human renal cell carcinoma cell lines differing in the P-glycoprotein-associated multidrug-resistant phenotype.
J. Cancer Res. Clin. Oncol. 125:117-120(1999)

PubMed=11720477; DOI=10.1054/bjoc.2001.2074; PMCID=PMC2375251
Marike Josee Janneke Gertrud Stassar, Gerard Devitt, Margot Brosius, Ludwig Rinnab, Jurgen Prang, Thomas Schradin, Jorg Simon, Simone Petersen, Annette Kopp-Schneider, Margot Zoller;
Identification of human renal cell carcinoma associated genes by suppression subtractive hybridization.
Br. J. Cancer 85:1372-1382(2001)

PubMed=11929824
Richard Batrla, Michael Linnebacher, Wolfgang Rudy, Susanne Stumm, Diethelm Wallwiener, Brigitte Guckel;
CD40-expressing carcinoma cells induce down-regulation of CD40 ligand (CD154) and impair T-cell functions.
Cancer Res. 62:2052-2057(2002)

PubMed=15977034; DOI=10.1007/s10334-005-0107-7
Norbert W. Lutz, Suzanne E. Franks, Markus H. Frank, Sigmund Pomer, William E. Hull;
Investigation of multidrug resistance in cultured human renal cell carcinoma cells by 31P-NMR spectroscopy and treatment survival assays.
MAGMA 18:144-161(2005)