Article
Is the P25L a "real" VHL mutation?
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Mar 2001
Rothberg P G, Bradley J F, Baker D W, Huelsman K M
Abstract excerpt
BACKGROUND: The von Hippel-Lindau (VHL) gene has two translational initiation sites separated by 53 codons. Both proteins have been detected in cells and have equivalent activity. A mutation in the first 53 codons of the open reading frame has no effect on the structure of the smaller protein. As expected, the vast majority of VHL mutations are downstream of the second initiation site and alter both proteins....
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