Fig. 3From: Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case reportMap of the mutations in BMP1 and mTLD. Mutations shown between the two isoforms affect both BMP1 and mTLD, while those shown above BMP1 affect only BMP1. The mutations found in our patient are bolded. The underlined mutation is considered to cause exon 10 skippingBack to article page