L353R and G400D mutations.

(A) Electropherograms showing the mutation identified in the Italian proband with afibrinogenemia. The T-G transversion leading to the L353R mutation, indicated by an arrow, was present in the heterozygous state in both parents. (B) ASO hybridization showing cosegregation of the L353R mutation and clinical phenotype in the Italian kindred. Family members were phenotypically classified as homozygous normal or heterozygote on the basis of plasma fibrinogen levels. Individuals within the pedigree are positioned above the corresponding lanes. Wild-type (FGB-L353) and mutant (FGB-R353) probes are listed in Table1. (C) Electropherograms showing the mutation identified in the Iranian proband with afibrinogenemia. The G-A transition leading to the G400D mutation, indicated by an arrow, was present in the heterozygous state in both parents. Family members are labeled as in Figure 1. FGB, fibrinogen Bβ-chain gene; K, G or T nucleotide; R, A or G nucleotide.