Sequencing primers for the performed Sanger sequencing of the COL1A1 and COL1A2 genes in patients with clinical signs of osteogenesis imperfecta were designed far from intron-exon splice sites, which allowed the identifying of splice site, missense, frameshift, and nonsense mutations in the exons of the COL1A1/2 genes. Here, COL1A1 is linked to osteogenesis imperfecta.