Publication

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
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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