Lack of expression ofSERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen-Reference-Cited by-同舟云学术

Lack of expression ofSERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

Published:2012-02-21 Issue:3 Volume:27 Page:723-728
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Venturi Giacomo,Gandini Alberto,Monti Elena,Carbonare Luca Dalle,Corradi Massimiliano,Vincenzi Monica,Valenti Maria Teresa,Valli Maurizia,Pelilli Enrico,Boner Attilio,Mottes Monica,Antoniazzi Franco

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.1480/fullpdf

Reference19 articles.

1. Genetic heterogeneity in osteogenesis imperfecta;Sillence;J Med Genet.,1979

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

3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat Genet.,2007

4. PPIB mutations cause severe recessive osteogenesis imperfecta;Van Dijk;Am J Hum Genet.,2009

5. Mutations in the gene encoding the RER protein FKBP65 cause autosomal recessive osteogenesis imperfecta;Alanay;Am J Hum Genet.,2010

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