Characterising and treating osteogenesis imperfecta
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Reference29 articles.
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3. PPIB mutations cause severe osteogenesis imperfecta;van Dijk;Am J Hum Genet,2009
4. Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S,. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86(3):389–98.
5. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86(4):551–9.
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