Associated Papers
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM2_ESM.xlsx › COL1A1_HGMD_data
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Dirani M et al.
Frontiers in Surgery, 2022
36338653 (PubMed )
Supplement: Table1.xlsx › Sup_tab1
[Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta].
Song Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
[A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family].
Zhao D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
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