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
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
Higuchi Y et al.
Molecular Genetics & Genomic Medicine, 2021
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
Liu W et al.
Molecular Vision, 2007
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