Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 PCR products. Southern blotting was used to search for larger alterations to the gene. The W117C (c.351G>T) missense mutation was found in 4 VHL type 1 (no pheochromocytoma) family members (patient/proband no. V13).

Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 PCR products. Southern blotting was used to search for larger alterations to the gene. The W117C (c.351G>T) missense mutation was found in 4 VHL type 1 (no pheochromocytoma) family members (patient/proband no. V13).