Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations

Abstract

The VWF gene ( VWF ) extends along 178 kb in the genome and comprises a total of 52 exons, whose sizes range from 40 to 1400 bp.[1][1] Systematic identification of the responsible mutations has been hampered by the large size and complex genomic organization of VWF , which is highly polymorphic and