Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations inCOL1A1-Reference-Cited by-同舟云学术

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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations inCOL1A1

Published:2013-08-19 Issue:9 Volume:28 Page:2001-2007
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Ben Amor I Mouna¹,Roughley Peter¹,Glorieux Francis H¹,Rauch Frank¹

Affiliation:

1. Shriners Hospital for Children and McGill University; Montreal; Quebec; Canada

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference35 articles.

1. Osteogenesis imperfecta;Rauch;Lancet.,2004

2. New perspectives on osteogenesis imperfecta;Forlino;Nat Rev Endocrinol.,2011

3. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum Mutat.,2007

4. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen;Willing;Am J Hum Genet.,1994

5. Killing the messenger: new insights into nonsense-mediated mRNA decay;Byers;J Clin Invest.,2002

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2. Radiofrequency Echographic Multispectrometry (REMS): A New Option in the Assessment Bone Status in Adults with Osteogenesis Imperfecta;Journal of Imaging;2023-10-03

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