Family pedigree of the afibrinogenemic proband and electropherograms showing the identified splice site mutation.

(A) Pedigree of the Pakistani family. Plasma functional fibrinogen levels (mg/dL) and immunoreactive fibrinogen levels (mg/dL) are indicated in this order below each symbol. The arrow indicates the proband. (B) Electropherograms showing the mutation identified in the afibrinogenemic Pakistani proband. The G→A transition, whose nucleotide position is indicated by an arrow (numbering according to GenBank accession number M10014), was present at the heterozygous state in both parents and absent in a healthy control individual (wt). Family members are labeled as in (A); R, A or G nucleotide.