Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Mendoza-Londono R, Fahiminiya S, Majewski J, Care4Rare Canada Consortium, T├ętreault 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, B├Ąchinger HP, Rauch F
Am J Hum Genet. 2015 96 (6): 979-85

PMID: 26027498 · PMCID: PMC4457955 · DOI:10.1016/j.ajhg.2015.04.021

MeSH Terms (19)

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, DNA

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