A novel case of compound heterozygosity with “Normandy’Vtype I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD - Siguret, V; Lavergne, JM; Cherel, G; Boyer-Neumann, C; Ribba, AS; Bahnak, BR; Meyer, D; Pietu, G (Hum Genet, 1994)