The Cys560Arg mutation in N.M.'s GPIIIa.

DNA sequence analysis was performed using N.M.'s genomic DNA. All exons, including intron-exon junctions, of both GPIIb and GPIIIa genes were amplified using PCR primer pairs hybridizing in the intron sequence flanking each exon. The resulting PCR fragments were purified and subjected to direct cycle sequencing. The nucleotide sequence of exon 10 of N.M.'s GPIIIa gene reveals a g1776T>C substitution (underlined codon), which results in the Cys560Arg mutation. The nucleotide substitution was also confirmed by sequence analysis performed by using reverse primer (not shown).