The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta-Reference-Cited by-同舟云学术

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The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta

Published:2011-06-14 Issue:1 Volume:30 Page:69-77
ISSN:0914-8779
Container-title:Journal of Bone and Mineral Metabolism
language:en
Short-container-title:J Bone Miner Metab

Author:

Zhang Zhen-Lin,Zhang Hao,Ke Yao-hua,Yue Hua,Xiao Wen-Jin,Yu Jin-Bo,Gu Jie-Mei,Hu Wei-Wei,Wang Chun,He Jin-Wei,Fu Wen-Zhen

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,General Medicine,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s00774-011-0284-6.pdf

Reference23 articles.

1. Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88–92

2. Sillence DO, Rimoin DL (1978) Classification of osteogenesis imperfecta. Lancet 1:1041–1042

3. Hartikka H, Kuurila K, Körkkö J, Heini Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L (2004) Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat 24:147–154

4. Kamoun-Goldrat A, Pannier S, Huber C, Finidori G, Munnich A, Cormier-Daire V, Le Merrer M (2008) A new osteogenesis imperfecta with improvement over time maps to 11q. Am J Med Genet Part A 146A:1807–1814

5. Marini JC, Forlino A, Cabral WA et al (2007) 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. Hum Mutat 28:209–221

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