Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Abstract

Key Points Mutations in a VHL cryptic exon may be found in patients with familial erythrocytosis or VHL disease. Synonymous mutations in VHL exon 2 may induce exon skipping and cause familial erythrocytosis or VHL disease.