Fig. 2From: Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case reportMutation analysis. Direct sequencing shows that the proband is compound heterozygous for c.796_797delTT (p.Phe266Argfs*25) and c.2108-2A > G in the BMP1 gene (NM_006129.4) while his father had c.796_797delTT (p. Phe266Argfs*25) and his mother had c.2108-2A > GBack to article page