Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases
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Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene. Mutations in the f... ...
