Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Author:

Alanay Yasemin,Avaygan Hrispima,Camacho Natalia,Utine G. Eda,Boduroglu Koray,Aktas Dilek,Alikasifoglu Mehmet,Tuncbilek Ergul,Orhan Diclehan,Bakar Filiz Tiker,Zabel Bernard,Superti-Furga Andrea,Bruckner-Tuderman Leena,Curry Cindy J.R.,Pyott Shawna,Byers Peter H.,Eyre David R.,Baldridge Dustin,Lee Brendan,Merrill Amy E.,Davis Elaine C.,Cohn Daniel H.,Akarsu Nurten,Krakow Deborah

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Byers, P. Disorders of Collagen Biosynthesis and Structure. In The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID), D. Valle, ed. (New York: McGraw-Hill, Inc). Chapter 205, http://www.ommbid.com/.

2. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta;Wenstrup;Am. J. Hum. Genet.,1990

3. Type V osteogenesis imperfecta: A new form of brittle bone disease;Glorieux;J. Bone Miner. Res.,2000

4. Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect;Glorieux;J. Bone Miner. Res.,2002

5. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

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