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Keywords: Osteogenesis imperfecta type VI
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Journal Articles
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
Available to PurchaseRenata Moldenhauer Minillo, Nara Sobreira, Maria de Fatima de Faria Soares, Julie Jurgens, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Decio Brunoni, Ana B. Alvarez Perez
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (6): 268–275.
Published Online: 25 November 2014
... KE, Lee SK, Song SJ, Kim KJ, et al: A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 91:343-348 (2012). 7. Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK: Osteogenesis imperfecta type VI with severe bony deformities caused by novel...
