Recessive osteogenesis imperfecta caused by missense mutations in SPARC.Mendoza-Londono R, Fahiminiya S, Majewski J, Care4Rare Canada Consortium, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F
(2015)
Am J Hum Genet 96: 979-85
MeSH Terms: Amino Acid Sequence, Base Sequence, Collagen Type I, Electrophoresis, Polyacrylamide Gel, Exome, Female, Genes, Recessive, Humans, Immunoblotting, Models, Molecular, Molecular Sequence Data, Mutagenesis, Site-Directed, Mutation, Missense, Osteogenesis Imperfecta, Osteonectin, Pedigree, Protein Conformation, Sequence Alignment, Sequence Analysis, DNAAdded November 2, 2017